4th International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12.

Cytogenet. Cell Genet. 22: 74-91 (1978)

Report of the committee on the genetic constitution of chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12 Prepared by

D. Booisma and F.H. R uddle (co-chairmen) Ollier committee members: D.A. A itken , J.A. B rown, G.A.P. Bruns , E.H.Y. C hu , C.M. C roce, I.W. C raig, U. F rancke, T. G edde-D ahl, J r., D.L. G eorge, J.L. G erman, K.-H. G rzeschik , B. H ellkuhl , C.A. Jones , F.T. K ao, H.P. K linger , B.B. K now les , P. L alley, E. L ovrien , E. M agenis, P.J. M cA lpine , P. M eera K han, J.D. M inna, T. M ohandas, N. S himizu , T.B. Show s , M. S mith , E. Solomon , R.S. S parkes , W. Stanley, A. W esterveld , and C.E. W right

In this report the assignments of genes are categorized as follows in order to denote the degree of certainty: C = Confirmed: observed in at least two institutes P = Provisional: based on firm evidence from one group

I = Inconsistent: groups disagree These assignments are based on family studies (F), including cyto genetic markers; somatic cell hybridization (S); and gene dosage effects (D). The regional assignments are presented in the figures. Each piece of information is given independently. Where possible, the shortest regions of overlap (SRO) have been indicated. The shortest region (SR) is mentioned in the legend if only one regional mapping result is available.

Gene assignments to chromosome 3 (table II, fig. 1) At present, there is no confirmed assignment to chromosome 3. A new assignment in the provisional category, a gene coding for glutathione

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Gene assignments to chromosome 2 (table I, fig. 1) A second locus for UGPP (UGPP>) was detected and assigned to this chromosome. Evidence is presented by Smith and H irschitorn (1977) for gene(s) on chromosome 2 which determine(s) attachment of Ig heavy chains to the cell membrane. Galactose-1-phosphate uridylyltransferase (GALT) genes have now been assigned to the chromosomes 2, 3, and 9. Further studies should solve these inconsistencies. The two pieces of data concerning the regional assignment of JDHS remain inconsistent (fig. 1).

Bootsma, R uddle

Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

75

Table I. Gene assignments to chrom osome 2. M arker

E.C. No.

Mode

Category

References

ACP, IDHS MDHS

3.1.3.2 1.1.1.42 1.1.1.37

F, S S

C

Hamerton et al. (1975) H amerton et al. (1975) H amerton et al. (1975) T an et al. (1974) Sun et al. (1975) Brown et al. (1976) Snow s et al. (1977a) H amerton et al. (1975); Sun et al. (1977); A llderdice and T edesco (1975); Bruns et al. (1977); Mohandas et al. (1977); Westerveld et al. (1977)

IM G a l+ -Act

S S

S S

AHH UGPPo

2 .1 .1 .9

s

G A LT

2.7.7.12

S, D

1.14.14.1

c c p p p p 1

Table II. G ene assignments to chrom osom e 3. M arker

E.C. No.

Mode

Category

References

P P P I

1

M ing et al. (1976) Carritt and G oldfarb (1976) W unen et al. (19776) Ruddle et al. (1975); SUN et al. (1977); Bruns et al. (1977); Mohandas et al. (1977); Westerveld et al. (1977) Shows et al. (19776); Bruns et al. (1977); de Wi r et al. (1977)

tsAF8 compl. HSV-1 G PX,

1.11.1.9

GALT

2.7.7.12

S S S S, D

/JGAL

3.3.1.23

S


peroxidase (GPX,) has been presented at this conference. Two groups have localized a gene for /5-galactosidase (fiGAL) on chromosome 3. This assignment seems to be in conflict with fiGAL on chromosome 22. More than one gene might be involved in the synthesis of this enzyme, which is supported by the finding of complementation between different types of GM) gangliosidosis by G aljaard et al. (1975).

76

Bootsma, R uddle

Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

Fig. 1. Regional assignments of ACP,, MDHS, 1DHS, and GALT on chromosome 2 and G ALT on chromosome 3. Each of the brackets opening to the left shows the approximate region to which the marker in question has been assigned, explicitly or implicitly, based on the work reported in the reference indicated by the number below the bracket. Dotted brackets indicate the shortest region of overlap (SRO). For IDHS there are two inconsistent SR’s, 2qll and 2q32-*2qter. The SR of GALT on chromosome 3 is 3q21—>-3qter. References: (1) F erguson -Smith et al. (1973); (2) M agenis et al. (1975); (3) H amerton et al. (1975); (4) H iggins et al. (1975); (5) F rancke (1974); (6) W eil et al. (1977); (7) S un et al. (1977); (8) A llderdice et al. (1975).

M arker

E.C. No.

Mode

Category

References

PGMo

2.7.5.1

S

C

PEPS

3.4.11 or 3.4.13

S

C

MNSs

F F D ,F

P P P

Tys

F

P

Ruddle et al. (1975); W ijnen et al. (1977«); Sparkes et al. (1978) Brown et al. (1977); Show s et al. (1978«) M ikkelsen et al. (1977) W eitkamp et al. (1970) G erman et al. (1968); Weitkamp et al. (1978) Deminatti et al. (1968)

Gc Alb


Table III. Gene assignments to chromosome 4.

Bootsma, R uddle

Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

77

Table IV. Gene assignments to chromosome 4 or 5. M arker

E.C. No.

M ode

C ategory

References

A de*B (FG RAT) Es-Act

6.3.5.3

S

P

Kao and P uck (1972)

S

P

Kao and P uck (1972)

Table V. Gene assignments to chrom osome 5. M arker

E.C. No.

M ode

C ategory

References

H E X jj DTS

3.2.1.30

S S

C C

S D S S

P P P P

Ruddle et al. (1975) Ruddle et al. (1975); Swallow et al. (1977); G eorge and F rancke (1977a) Ruddle et al. (1975) Lin and T an (1975) H ellkuhl and G rzeschik (1977) G iles et al. (1977)

If-2 AVSrr ARS„ LEURS

4

3.1.6.1

pgm2

peps

5

Gc

HEXb

OTS

AVSrr

pter

pter

p14 cen o ql1 V-

:SRO

:SRO

q>3

q21

q13 q!5

q25 q26

ISRO

qter

1 1 1 2 3 4

4

5

q ter ■— —* —* 6 6 7 7 7

6 6 7 7

8

Fig. 2. Regional assignments of PGM ,, PEPS, and Gc on chromosome 4 and HEXB, DTS, and AVSrr on chromosome 5. For PEPS, SR is 4pter—>-4q21; for Gc, 4qll-*4ql3; and for AVSrr, 5p. References: (1) M c A lpine et al. (19756); (2) M cA lpine et al. (1975a); (3) S parkes et al. (1978); (4) F rancke and Brown (1977); (5) M ikkelsen et al. (1977); (6) G eorge and F rancke (1977a); (7) G eorge and F rancke (19776); (8) I. in and T an (1975).


q31

78

Bootsma, R uddle Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

Gene assignments to chromosome 4 (tables III and IV, fig. 2) The provisional assignment of PGM> to chromosome 4 was confirmed. PEPS was found to be located on this chromosome by two different groups. At the Baltimore Conference (1975), a locus that affects the expression of the MN blood group was provisionally assigned to chromosome 2. Further studies of this blood-group marker made this assignment rather Table VI. Gene assignments to chromosome 7. M arker

E.C. No.

Mode

Category

References

/?GUS

3.2.1.31

S

C

MDHm

1.1.1.37

S

C

SV40-la

S

P

SA7-P> SA7-2b UP

S S S D, F

P P P P

D, F F, D S D S

P P P P P P

C han et al. (1976); C hern and C roce (1976); F rancke (1976); G rzeschik (1976); Lalley et al. (1977); Knowles et al. (19776) Ruddle et al. (1975); Benn et al. (1977); Shimizu et al. (1977) C roce (1977); Knowles et al. (19776); Koprowski and C roce (1977); Ruddle et al. (1977) Cicurel and C roce (1977) Knowles et al. (1977a) D enney et al. (1977) de la C hapelle et al. (1975); Mohr and E iberg (1977) Shokeir et al. (1973) Keats et al. (1977) de G rouchy and T urleau (1974) C raig et al. (1975) Ruutu et al. (1977) Solomon and S ykes (1977)

2.4.2.3

Co Jk

Km HAF HADH N CR

COL,

1.1.1.35


a SV-40 association with, or integration into, a chromosome is established by using various SV40 phenotypes as genetic markers. The SV40 transformation, T antigen, and nucleic acid sequence “phenotypes” have been used in this regard. •' SA7-1 = Surface antigen detected by C icurel and C roce (1977) which is also assigned to chromosome 17; SA7-2 = surface antigen detected by K now les et al. (1977a). Further studies are required to demonstrate the presence of one gene or two different genes coding for these antigens.

Bootsma, R uddle

cen

MDH„

pGUS

. 7 pter p22 p14 p13

Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12 SV40-I

JK

HAF

9

10

79

] cen—q21

q21 q22

q32 q35 qter

]

1 2 3 4 4 5 6

3 6 7

8

Fig. 3. Regional assignments of ¡}GUS, MDHm, SV40-1, Jk, and HAF on chromo some 7. For SV40-1, SR is 7q; for Jk, 7q; and for HAF, 7q35. References: (1) K now les et al. (19776); (2) B auch et al. (1977); (3) M agenis et al. (19776); (4) G eorge and F rancke (1977); (5) Snows et al. (19786); (6) B enn et al. (1977); (7) Shimizu et al. (1977); (8) K nowles et al. (19776); (9) S hokeir et al. (1973); (10) de G rouchy and T urleau (1974).

unlikely. The assignment was based on a t(2;4) translocation in which the location of the marker on chromosome 4 could not be excluded with certainty. Therefore, this locus is now tentatively assigned to chromo some 4.

Gene assignments to chromosome 7 (table VI, fig. 3) A gene coding for /?GUS was assigned to chromosome 7 by five different groups. This assignment is in conflict with evidence for localiza tion of a /JGUS gene on chromosome 9 presented in an abstract by M urnane et al. (1975). As the latter work has not been extended, it was decided to put the chromosome 7 assignment of flGUS in the confirmed category. The assignment of malatc dehydrogenase (mitochondrial) (MDHm) was also confirmed. Uridine phosphorylase (UP) was presented as a new provisional enzyme marker for chromosome 7. A gene involved in the production of type 1 collagen (COL¡) was assigned to chromo-


Gene assignments to chromosome 5 (table V, fig. 2) Two new markers have provisonally been assigned to chromosome 5: arylsulfatase B (ARSa) and leucyl-tRNA synthetase (LEURS) (table V). New regional mapping data are presented in fig. 2 for H EXn and DTS.

Bootsma, R uddle

80

Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

some 7. In another study (Sunoar R aj et al., 1977), a procollagen gene was assigned to chromosome 17. Further studies might reveal the existence of two different genes (one on chromosome 7 and one on 17). Gene assignments to chromosome 8 (tables VII and VIII, fig. 4) The regional mapping of glutathione reductase (GSR) reached a remarkable precision by combining the data from four different studies Table VII. Gene assignments to chrom osome 8. M arker

E.C. No.

Mode

Category

References

GSR

1.6.4.2

S, D

C

D

P

R uddle et al. (1975); de la C hapelle (19766) de G rouchy et al. (1974)

F7r

Table VIII. G ene assignments to chrom osom e 8 o r another chrom osome. M arker

O ther chrom o some

Mode

Category

References

SPH-1

12 6 6

F

P P P

Kimberling et al. (1975) Bennick et al. (1977) G edde -D ahl et al. (1975)

Gm

Pi

S F

M arker

E.C. No.

Mode

C ategory

References

GOTs H Kj

2.6.1.1 2.7.1.1

S S

C C

PP

3.6.1.1

S

c

A DK

2.7.1.20

S S S

p p p

R uddle et al. (1975) S now s (1973); C hern (1976) F isher et al. (1975); M cA lpine et al. (1975c); Nguyen V an C ong et al. (1975) Klobutcher et al. (1975) Jones (1975) W right and Show s (1977)

GSAS FUSE


Table IX. Gene assignments to chrom osome 10.

Bootsma, R uddle

81

Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12 10

q24 q26 qter

G0TS

;]]].

7 8 9 9

HK,, PP

jS R O

10

Fig. 4. Regional assignments of GSR and SPH-1 on chromosome 8 and GOTs, HK,, and PP on chromosome 10. For SPH-1, SR is 8p 11; for HK) and PP, lOpter—>10q24. References: (1) Sinet et al. (1977); (2) d e la C hapelle et al. (1977a); (3) G eorge and F rancke (1976); (4) M agenis et al. (1977a); (5) D allapiccola et al. (1977); (6) K imberling et al (1975); (7) C hern et al. (1976); (8) H ellkuhl and G rzeschik (1976); (9) A itken and F erguson -S mith (1977); (10) C hern (1976).

(fig. 4). Evidence is presented by K linger et al. (1977) which implicates chromosomes 8, 9, and 11 as conveying information which affects the expression of tumorigenicity of heteroploid rodent cells. The Gm-Pi linkage group was provisionally assigned to either chromosome 6 or 8.

Gene assignments to chromosome 11 (table X, figs. 5 and 6) The consistent association of Wilm’s tumor-aniridia, genitourinary abnormalities, and mental retardation (WAGR) with Tip interstitional deletions was described. No other new assignments to this chromosome were presented at this conference. Progress was made in the regional assignment of chromosome 11 markers. The shortest region of overlap concerning LDH.i assignments represents one of the most precise assign ments of a locus on a human chromosome (fig. 5).


Gene assignments to chromosome 10 (table IX, fig. 4) Since the Baltimore Conference (1975), there has been some progression in the mapping of chromosome 10. The GOTs locus has been rather precisely mapped on the long arm, whereas the first data concerning the regional mapping of HKt and PP were published. A gene that controls an in vitro expression of cell fusion (F USE) has been identified and assigned to chromosome 10.

82


Table X. Gene assignments to chromosome 11. M arker

E.C. No.

Mode

Category

References

LD H V

1.1.1.27 3.1.3.2 3.1.1.1

S S S

C C

S S S

p p p p p

Ruddle et al. (1975) Ruddle et al. (1975) Ruddle et al. (1975) Moore et al. (1976) Jones et al. (1975) Jones et al. (1975) B u c k ct al. (1975) Riccardi ct al. (1978)

ACPo

ESA.j ALa-l ALa-2 ALa-3 SA-1

S

WAGR

D

11

ESA,.

ACP,

L0H4

pter p1S pl51 p!4 P’3 p i l l g1, |

c

IT

J]

:

P,23n n :

pit-1 cen (T

SRO:

-■ 12. 8 -

-12 3

|SRO

q13

SRO

q22

qter L. 1 2 3 4 4 4 4 5 5 5 5

5 5 5 5 6

3 5 6

Fig. 5. Regional assignments of LDHA, ACP.,, and ESAt on chromosome 11. References: (1) F rancke and B u s b y (1974); (2) G rzeschik (1974); (3) K uciierlapati ct al. (1973); (4) F rancke et al. (1977); (5) K ao et al. (1977); (6) B u s b y et al. (1975). ALa-l, A la-3

A la -2

S A -I

Fig. 6. Regional assignments of ALa-l, 2, and 3 and SA-1 on chromosome 11. For SA-1, SR is lip. References: (1) K ao et al. (1977); (2) Buck et al. (1975).


11

BooTSMA, R uddle

83

Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

Gene assignments to chromosome 12 (table XI, fig. 7) The assignments of citrate synthase (CS), enolase-2 (ENO>), and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) to chromosome 12 were confirmed. A very precise regional assignment of lactate dehydroTable XL Gene assignments to chromosome 12.» M arker

E.C. No.

Mode

Category

References

LDH[, PEPB

CS

1.1.1.27 3.4.11.1 4.1.3.7

S S S

C c c

T P I1'

5.3.1.1

S

c

ENO.,

4.2.1.11

s

c

GAPDH

1.2.1.12

s

c

SHM T SA12-1

2.1.2.1

s s

P P

Ruddle et al. (1975) R uddle et al. (1975) C raig et al. (1973); H erbschleb-V oogt et al. (1977) Jongsma et al. (1973); K ucherlapati et al. (1974) G rzeschik (1975); H erbschleb-V oogt et al. (1977) Bruns and G erald (1976); H erbschleb -V oogt et al. (1977) Jones et al. (1972) Seravalli et al. (1977)

» Sec also table VIII. i>At this conference, Bruns and co-workers presented preliminary evidence for the presence of two different TPI loci on chromosome 12.

12 pter p12 2 _ pl2 p121 P 11

-

ql2

-

cen r

IPI

PEPB

lo hb

GAPDH

ISRO

1 _SR O : 4

SHMT

¡ 12.2 -

—

12.1

q14 SRO:

q2t

q21

qter L 3 4 4 7

3 6 6 6 7

6 6 6 7 9

7

Fig. 7. Regional assignments of LDH[), PEPB, TPI, GAPDH, and SHMT on chro mosome 12. For SHMT, SR is 12pter->12ql4. References: (1) M ayeda et al. (1974); (2) R ethoré et al. (1975); (3) J ongsma et al. (1974); (4) H amerton et al. (1975); (5) M alpuech et al. (1975); (6) R ethoré et al. (1977); (7) K ao et al. (1977); (8) G edde -D aiil et al. (1977); (9) H erbschleb-V oogt et al. (1977).


1 2 3 4 4 5 6 6 6 7 8

84

Bootsma, R uddle

Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

genase-B (LDHn) was obtained by combining the data from eight different studies (fig. 7). New regional mapping results were presented concerning peptidase-B(PEPD), triosephosphate isomerase (TPI), GAPDH, and serine hydroxymethyltransferase (SHMT, Gly *A).

References A itken , D.A. and F erguson -S mith , M.A.: Gene dosage evidence for the regional

assignment of the GOT$ structural gene locus to 10q24—>10q25. This conference (1977). A llderdice , P.W. and T edesco , T.A.: Localisation of human gene for galactose-1phosphate-uridyltransferase. Lancet it: 39 (1975). B auch, W.; H ellkuhl , B., and G rzeschik , K.-H.: Regional assignment of the gene for human /(-glucuronidase by the use of human-mouse cell hybrids. This con ference (1977). B enn, P.; C hern , C.J.; B runs , G.; C raig, I.W., and C roce, C.M.: Assignment of the genes for human /(-glucuronidase and mitochondrial malate dehydrogenase to the region pter—>-q22 of chromosome 7. Cytogenet. Cell Genet. 19:273-280 (1977). B ennick , A.; G edde -D ahl, T., J r ., and B rogger, A.: Mapping with B-cell hybrids. This conference (1977). B rown , S.; L alley, P.A., and M inna, J.D.: Assignment of the gene for peptidase S

(PEPS) to chromosome 4 in man and confirmation of peptidase D (PEPD) assignment to chromosome 19. This conference (1977). Brown , S.; W iebel , F.J.; G elboin, H.V., and M inna, J.D.: Assignment of a locus required for flavoprotein-linked mono-oxygenase expression to human chromo some 2. Proc. natn. Acad. Sei. USA 73: 4628-4632 (1976). Bruns , G. and G erald, P.S.: H um an glyceraldehyde-3-phosphatc dehydrogenase in m an-rodent som atic cell hybrids. Science 192: 54-56 (1976). B runs , G.A.P.; L eary, A.C.; E isenman , R.E.; B azinet, C.W.; R egina, V.M., and G erald, P.S.: Expression of ACONs and GALT in man-rodent somatic cell

hybrids. This conference (1977a). Bruns , G.A.P.; L eary, A.C.; R egina, V.M., and G erald, P.S.: Lysosomal /?-D-galac-

tosidase in man-hamster somatic cell hybrids. This conference (19776). species antigen on human chromosome 11 is on the short arm. Baltimore Con ference (1975), pp. 97-98. Busby , N.; C ourval , J., and F rancke, U.: Regional assignments of the genes for fumarate hydratase and guanylate kinase on chromosome 1 and for lysosomal acid phosphatase and esterase A4 on chromosome 11. Baltimore Conference (1975), pp. 105-107. C arritt , B. and G oldfarb, P.: A human chromosomal determinant for susceptibility to herpes simplex virus. Nature, Lond. 264: 256-258 (1976).


Buck , D.W.; Bodmer , W.F.; Bobrow , M., and F rancke, U.: The gene for the

Bootsma, R uddle

Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

85

C han, T.-S.; R eardon, M.P., and G reenstein , R.M.: Somatic cell hybrid assignment

of a structural gene for human /(-glucuronidase to chromosome 7 by use of an X/7 translocation. Cytogenet. Cell Genet. 17: 291-295 (1976). de la C hapelle , A.; I cén , A.; A ula, P.; L eisti , J.; T urleau, C., and de G rouchy, J.: Mapping of the gene for glutathione reductase on chromosome 8. Annls Génét. 19: 253-256 (1976a). de la C hapelle , A.; V uopio , P., and I cén , A.: Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity. Blood 47: 815-826 (19766). de la C hapelle , A.; V uopio , P.; S anger, R., and T eesdale , P.: The Colton blood groups in monosomy 7 of the bone marrow. Baltimore Conference (1975), pp. 280-283. C hern , C.J.: Localization of the structural genes for hexokinase-1 and inorganic pyrophosphatase on region (pter—>q24) of human chromosome 10. Cytogenet. Cell Genet. 17: 338-342 (1976). C hern , C.J. and C roce, C.M.: A ssignment of the structural gene for hum an /?-glucuronidase to chrom osom e 7 and tetram eric association of subunits in the enzyme molecule. Am. J. hum. G enet. 28: 350-356 (1976).

plasmic glutamic-oxaloacetic-transaminase to region q24-^qter of human chro mosome 10. Somat. Cell Genet. 2: 177-182 (1976). Chu, E.H.Y.; Chang, C.C., and Sun, N.C.: Synteny of the human genes for Gal-l-PT, ACP,, MDH-1, and G al+-Act and assignment to chromosome 2. Rotterdam Conference (1974), pp. 103-106. C icurel , L. and C roce, C.M.: Somatic cell hybrids between mouse peritoneal macrophages and SV40-transformed human cells. III. Identification of surface antigens coded for by human chromosomes 7 and 17. J. Immun. 118: 1951-1956 (1977). C raig, I.W.; van H eyningen , V.; F innegan, D., and Bodmer , W.F.: Analysis of the mitochondrial enzymes citrate synthetase (EC 4.1.3.7) and malatc dehydrogenase (EC 1.1.1.37) in human-mouse somatic cell hybrids. New Haven Conference (1973), pp. 76-78. C raig, I.W.; T olley , E., and Bobrow , M.: A preliminary analysis of the segregation of human hydroxyacyl coenzyme A dehydrogenase in human-mouse somatic cell hybrids. Baltimore Conference (1975), pp. 115-117. Croce, C.M.: Assignment of the integration site for simian virus 40 to chromo some 17 in GM54VA, a human cell line transformed by simian virus 40. Proc. natn. Acad. Sci. USA 74: 315-318 (1977). D allapiccola, B.; Santoro, L.; T rabace, S.; R amenghi, M.; M astroiacovo, P., and G andini, E.: Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8)(q 13;q213). Hum. Genet. 38: 125-130 (1977). D eminatti, M.; D elmas -M arsalet , Y.; M ennecier , M.; M arquet, S.; A gache, P., and H uriez , C.: Etude du linkage probable entre une génodermatose à trans mission autosomale dominante et le système de groupe sanguin MNSs. Annls Génét. 11: 217-224 (1968).


C hern , C.J.; M ellman, W.J., and C roce, C.M.: Assignment of the gene for cyto

86

Bootsma, Ruddle

Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

D enney , R.M.; N iciiols , E.A., and R uddle , F.H.: Assignment of a gene for uridine

phosphorylase to chromosome 7. This conference (1977). F erguson -S mith , M.A.; N ewman , B.F.; E llis , P.M.; T hompson , D.M.G., and R iley , I.D.: Assignment by deletion of human red cell acid phosphatase gene

locus to the short arm of chromosome 2. Nature new Biol. 243: 271-274 (1973). Assignment of the locus determining inorganic pyrophosphatase to chromo some 10 in man. Baltimore Conference (1975), pp. 129-130. F rancke, U.: Regional localization of the human genes for malate dehydrogenasc-1 and isocitrate dehydrogcnase-1 on chromosome 2 by interspecific hybridization using human cells with the balanced reciprocal translocation t(l;2)(q32;ql3). Rotterdam Conference (1974), pp. 138-142. F rancke, U.: The human gene for /(-glucuronidase is on chromosome 7. Am. J. hum. Genet. 28: 357-362 (1976). F rancke, U. and B rown , S.: Regional assignment of genes for phosphoglucomutasc., and peptidase S to 4pter—>4q21 in man. This conference (1977). F rancke, U. and Busby, N.: Assignments of the human genes for lactate dehydrogenasc-A and thymidine kinase to specific chromosomal regions. Rotterdam Conference (1974), pp. 143-149. F rancke, U.; G eorge, D.L.; B rown , M.G., and R iccardi, V.M.: Gene dose effect: intraband mapping of the LDH t locus using cells from four individuals with different interstitial deletion of lip . Cytogenet. Cell Genet. 19: 197-207 (1977). G aljaard, H.; H oogeveen , A.; K eijzer , W .; de W it -Verbeek , H.A.; R euser , A.J.J.; M ae W an H o, and R obinson , D.: Genetic heterogeneity in GM,-gangliosidosis. Nature, Lond. 257: 60-72 (1975). G edde -D ahl , T., J r .; C ook , P.J.L.; F agerol, M.K., and P ierce , J.A.: Improved estimate of the Gm-Pi linkage. Ann. hum. Genet. 39: 43-50 (1975). G eorge, D.L. and F rancke, U.: Gene dose effect: regional mapping of human glutathione reductase on chromosome 8. Cytogenet. Cell Genet. 17: 282-286 (1976). G eorge, D.L. and F rancke, U.: Regional mapping of human genes for hexos aminidase B and diphtheria toxin sensitivity on chromosome 5 using mouse X human hybrid cells. Somat. Cell Genet. 3: 629-638 (1977a). G eorge, D.L. and F rancke, U.: Evidence for localization of the gene for hexos aminidase B to the cen-»-ql3 region of human chromosome 5 using mouse X human hybrid cells. This conference (1977b). G eorge , D.L. and F rancke, U.: Regional mapping of /(-glucuronidase (flGUS) on human chromosome 7. This conference (1977c). G erman, J.; W alker, M.E.; S tiefel , F.H., and A llen , F.H.: MN blood-group locus: data concerning the possible chromosomal location. Science 162:1014-1015 (1968). G iles , R.E.; S himizu , N.; N ichols , E.; L awrence, J.. and R uddle , F.H.: Correction of a heat sensitive lesion associated with reduced leucyl-tRNA synthetase activity in Chinese hamster cells by fusion with human leucocytes. J. Cell Biol. 75: 387A (1977).


F isher , R.A.; P utt , W.; P ovey, S.; B uckton, K.E.; G ormley , I.P., and P erry , P.:

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Chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

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Déficit en facteur VII de la coagulation chez trois sujets trisomiques 8. Annls Genêt. 17: 105-108 (1974). de G rouchy, J. and T urleau, C.: Tentative localization of a Hageman (factor XII) locus on 7q, probably the 7q35 band. Humangenetik 24: 197-200 (1974). G rzeschik , K.-H.: Regional mapping of human chromosomes 1 and 11. Rotterdam Conference (1974), pp. 172-175. G rzeschik , K.-H.: Assignment of human genes: /(-glucuronidase to chromosome 7, adenylate kinase-1 to 9, a second enzyme with enolase activity to 12, and mito chondrial IDH to 15. Baltimore Conference (1975), pp. 142-148. G rzeschik , K.-H.: Assignment of a structural gene for /(-glucuronidase to human chromosome C7. Somat. Cell Genet. 2: 401-410 (1976). H amerton, J.L.: Report of the committee on the genetic constitution of chromo somes 1 and 2. Baltimore Conference (1975), pp. 7-23. H amerton, J.L.; M ohandas, T.; M c A lpine , P.J., and D ouglas , G.R.: Localization of human gene loci using spontaneous chromosome rearrangements in humanChinese hamster somatic cell hybrids. Am. J. hum. Genet. 27: 595-608 (1975). H ellkuhl , B. and G rzeschik , K.-H.: Regional mapping of human chromosome 10: assignment of the gene for cytoplasmic glutamate-oxaloacetate transaminase to 10q24—>qter. Hum. Genet. 33: 109-112 (1976). H ellkuhl , B. and G rzeschik , K.-H.: Assignment of a gene for arylsulfatase-B to human chromosome 5 using human-mouse somatic cell hybrids. This conference (1977). H erbschleb-Voogt , E.; M onteba-van H euvel , M.; W ijnen , L.M.M.; W esterveld , A.; P earson, P.L., and M eera K han, P.: Chromosomal assignment and regional localization of CS, ENO.,, GAPDH, LDHn, PEPB, and TP! in man-rodent cell hybrids. This conference (1977). H iggins , J.V.; W isniew sk i , L.; H assold , T.; H ackel, E.; R aeburn, R.A.; Buckton, K.E.; N oades, J.E., and C ook, P.J.L.: Two informative translocations involving chromosome 2. Baltimore Conference (1975), pp. 314-316. J ones , C.: Synteny between the Pro*' marker and human glutamate oxaloacetate transaminase. Somat. Cell Genet. 1: 345-354 (1975). J ones , C.; W uthier , P.; K ao, F.T., and P uck , T.T.: Genetics of somatic mammalian cells. XV. Evidence for linkage between human genes for lactic dehydrogenase B and serine hydroxymethylase. J. Cell Physiol. 80: 291 (1972). J ones , C.; W uthier , P., and P uck , T.T.: Genetics of somatic cell surface antigens. III. Further analysis of the AL marker. Somat. Cell Genet. 1: 235-246 (1975). J ongsma , A.P.M.; H agemeijer , A., and M eera K han, P.: Regional mapping of TPI, LDH-B, and Pep-B on chromosome 12 of man. Rotterdam Conference (1974), pp. 189-191. J ongsma , A.P.M.; Los, W.R.T., and H agemeijer , J.: Evidence for synteny between the human loci for triose phosphate isomerase, lactate dehydrogenase-B, and peptidase-B and the regional mapping of these loci on chromosome 12. New Haven Conference (1973), pp. 106-107. K ao, F.T.; J ones , C.; L iao L aw , M., and P uck , T.T.: Regional assignment of genes on human chromosomes 11 and 12. This conference (1977).

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of a human esterase activator gene linked to the AdeB gene. Proc. natn. Acad. Sci. USA -q31 of chromosome 7. Unpublished observations (19776). observation de délétion partielle du bras court du chromosome 12: localisation du gene de la lactico deshydrogénase B. Lyon méd. 233: 275-279 (1975). M ayeda, K.; W e iss , L.; L indahl , R., and D ully, M.: Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12. Am. J. hum. Genet. 26: 59-64 (1974). M cA lpine , P.J.; M ohandas, T., and H amerton, J.L.: Isozyme analysis of somatic cell hybrids: assignment of the phosphoglucomutase., (PGM.,) gene locus to chro mosome 4 in man with data on the molecular structure and human chromosome assignments of six additional markers. In C.L. M arkert, ed.: Isozymes. IV. Genetics and evolution, pp. 149-167 (Academic Press, New York 1975«), M cA lpine , P.J.; M ohandas, T.; R ay, M., and H amerton, J.L.: Regional localiza tions of four markers on chromosome 1 using a 1/4 translocation. Baltimore Conference (19756), pp. 197-200. M cA lpine , P.J.; M ohandas, T.; R ay, M.; W ang, H , and H amerton, J.L.: Assign ment of the inorganic pyrophosphatase gene locus (PP) to chromosome 10 in man. Baltimore Conference (1975c), pp. 201-203. M ikkelsen , M.; J acobson, P„ and H enningen , K : Possible localization of Gcsystem on chromosome 4: loss of long arm 4 material associated with fatherchild incompatibility within the Gc-system. Hum. Hered. 27; 105-107 (1977). M ing, P.L.; C hang, H.L., and Baserga, R.L.: Release by human chromosome 3 of the block at G-l of the cell cycle in hybrids between tsAF8 hamster and human cells. Proc. natn. Acad. Sci. USA 73: 2052-2055 (1976). M ohandas, T.; S parkes , R.S.; Sparkes , M.C.; Shulkin , J.D.; T oomey , K.E., and F underburk , S.J.: Assignment of G ALT to chromosome 9 and regional localiza tion of GALT, AKj, AK3, and ACONs on chromosome 9. This conference (1977). M ohr , J. and E iberg, H.: Colton blood groups: indication of linkage with the Kidd (Jk) system as support for assignment to chromosome 7. Clin. Genet. 11: 372-374 (1977). M oore , E.E.; J ones , C., and P uck , T.T.: Cell surface antigen. IV. Immunological correspondence between glycophorin and the A1 human cell surface antigen. Cytogcnct. Cell Genet. 17: 89-97 (1976). M urnane, M.J.; K ucherlapati, R.S.; C hen , S., and R uddle , F.H.: Assignment of a genetic element for human beta-glucuronidase lo chromosome 9. [Abstr.] Am. J. hum. Genet. 27: 68A (1975). N guyen V an C ong ; R ebourcet, R.; W eil , D.; P angalos, C., and F rézal , J.: Localisation d’un locus de structure de la pyrophosphatase inorganique «érythro cytaire» sur le chromosome 10 chez l’homme par la méthode d’hybridation cellulaire homme-hamster. C.r. Acad. Sci. D 281: 435-438 (1975). R ethoré, M.-O.; K aplan, J.-C.; J unien , C.; C ruveillier , J.; D utrillaux, B.; A urias , A.; C arpentier , S.; L afourcade, J., and L ejeune , J.: Augmentation de


M alpuech, G.; K aplan, J.-C.; R ethoré , M.-O.; J unien, C., and G eneix , A.: Une


l’activité de la LDH-B chez un garçon trisomique 12p par malségrégation d'une translocation maternelle t(12;14)(ql2;pll). Annls Génét. 18: 81-87 (1975). R ethoré , M.-O.; K aplan, J.C.; J unien , C., and L ejeune , J.: 12pter->-12pl2.2: Possible assignment of human triose phosphate isomerase. Hum. Genet. 36: 235-237 (1977). R iccardi, V.M.; S ujansky , E.; S m ith , A.C., and F rancke, U.: Chromosomal imbalance in the aniridia-Wilms tumor association: lip interstitial deletion. Pediatrics 61: 604-610 (1978). R uddle , F.H. and M eera K han, P.: Report of the committee on the genetic consti tution of autosomes other than chromosomes 1, 2, and 6. Baltimore Conference (1975), pp. 31-53. R uutu , P.; R uutu , T.; V uopio , P.; K osunen , T.U., and de la C hapelle , A.: Defective chemotaxis in monosomy 7. Nature, Lond. 265: 146-147 (1977). S eravalli, E.; Schwab, R.; P ernis , B., and S iniscalco, M.: Characterization of a mouse myeloma lymphoblast hybrid line with respect to Ig production and species-specific surface antigens. This conference (1977). S him izu , N.; S him izu , Y., and R uddle , F.H.: Assignment of the human mito chondrial NAD-linked malate dehydrogenase gene to the p22—»-qter region of chromosome 7. This conference (1977). S hokeir , M.H.K.; Y ing , K.L., and P abello, P.: Deletion of the long arm of chro mosome No. 7: tentative assignment of the Kidd (Jk) locus. Clin. Genet. 4: 360-368 (1973). S how s , T.B.: Synteny of human genes for glutamic oxaloacetic transaminase and hexokinase in somatic cell hybrids. New Haven Conference (1973), pp. 143-145. Show s , T.B.; B rown , J.A.; E ddy, R.L.; Byers , M.G.; H aley, L.L.; C ooper , E.S., and G oggin , A.P.: Assignment of peptidase S (PEPS) to chromosome 4 in man using somatic cell hybrids. Hum. Genet. (1978a, in press). S how s , T.B.; Brown , J.A.; G oggin , A.P.; H aley, L.L.; Byers , M.G., and E ddy, R.L.: Assignment of a molecular form of UDP glucose pyrophosphorylasc (UCPP-,) to chromosome 2 in man. This conference (1977a). S how s , T.B.; B rown , J.A.; H aley, L.L.; Byers , M.G.; E ddy, R.L.; C ooper , E.S., and G oggin , A.P.: Assignment of the ^-glucuronidase structural gene to the pter—>-q22 region of chromosome 7 in man. Cytogenet. Cell Genet. 21: 99-104 (19786). S how s , T.B.; Scrafford-W olff , L; B rown , J.A., and M eisler , M.: Assignment of a /?-galactosidase gene (/1GALA) to chromosome 3 in man. This conference (19776). S inet , P.-M.; Bresson , J.-L.; C outurier , J.; L aurent, C.; P rieur , M.; R ethoré , M.-O.; T aillemite , J.-L.; T oudic , D.; J érome , H., and L ejeune , J.: Localization probable du gène de la glutathion reductase (EC 1.6.4.2) sur la bande 8p21. Annls Génét. 20: 13-17 (1977). S olomon, E. and S ykes , B.: Assignment of a structural gene for type 1 collagen to chromosome 7. This conference (1977). S parkes , R.S.; M ohandas, T.; S parkes , M.C., and Shulkin , J.D.: Regional localiza tion of human phosphoglucomutase-2 locus on chromosome 4. Expl Cell Res. I ll: 492-495 (1978).


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plciotropic effect on carbohydrate metabolism. Proc. natn. Acad. Sci. USA 72: 469-473 (1975). S un, N.C.; S un, C.R.J., and C hu , E.H.Y.: Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase. Hum. Genet. 37: 279-284 (1977). S undar R aj, C.V.; C hurch , R.L.; Kjlobutcher, L.A., and R uddle , F.H.: Genetics of the connective tissue proteins: assignment of the gene for human type I pro collagen to chromosome 17 by analysis of cell hybrids and microcell hybrids. Proc. natn. Acad. Sci. USA 74: 4444^1448 (1977). Swallow , D.M.; Solomon, E., and P ajunen, L.: Immunochemical analysis of the N-acctylhexosaminidases in human-mouse hybrids made using a double selective system. Cytogenet. Cell Genet. 18: 136-148 (1977). T an, Y.H.; C reagan, R.P., and R uddle , F.H.: The somatic cell genetics of human interferon: assignment of human interferon loci to chromosomes 2 and 5. Proc. natn. Acad. Sci. USA 71: 2251-2255 (1974). W eil , D.; N guyen V an C ong ; F inaz, C.; R ebourcet, R.; C ochet , C.; de G rouchy, J., and F rézal, J.: Localisation régionale des gènes humains IDHS, MDHS, PGK, a-GAL, G6PD par l'hybridation cellulaire interspécifique. Hum. Genet. 36: 205-211 (1977). W eitkamp , L.R.; F erguson -S mith , M.A.; G uttormsen , S.A.; H untzinger , R.S.; C haganti, R.S.K.; G erman, J., and S chanfield , M.S.: The linkage relationships of marker sites on chromosomes Nos. 2 and 10. Ann. hum. Genet. (1978, in press). W eitkamp , L.R.; R enwick , J.H.; B erger , J.; S hreffler , D.C.; D rachman, O.; W uhrmann, R.; B raend, M., and F ranglen, G.: Additional data and summary for albumin-Gc linkage in man. Hum. Hered. 20: 1-7 (1970). W esterveld , A.; G arver, J.; N ijman , M.A., and P earson, P.L.: Regional localiza tion of the genes coding for human red cell adenylate kinase, aconitase, and galactosc-l-phosphate uridylyltransferase on chromosome 9. This conference (1977). W ijnen , L.M .M .; G rzeschik , K.-H.; P earson, P.L., and M eera K han, P.: The human PGM-2 and its chromosomal localization in man-mouse hybrids. Hum. Genet. 37: 271-278 (1977a). W ijnen , L.M .M .; M onteba-van H euvel , M.; P earson, P.L., and M eera K han, P.: Assignment of a gene for glutathione peroxidase (GPX,) to human chromo some 3. This conference (19776). DE W it , J.; H oeksema , H.L.; H alley, D.; H agemeijer, A.; Bootsma, D., and W esterveld , A.: Regional localization of a /i-galactosidase locus on human chromosome 22. Somat. Cell Genet. 3: 351-363 (1977). W right , C.E. and S how s , T.B.: Gene assignment of a polykaryocytosis promotor (FUSE) to chromosome 10 in man. This conference (1977).

4th International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of chromosomes 13 to 22.

4th International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of chromosome 1.

Human gene mapping 2. Rotterdam Conference (1974). 2d International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of the X chromosome.

Human gene mapping. 2. Rotterdam Conference (1974). 2d International Workshop on Human Gene Mapping. Reference to the committee reports.

Human gene mapping 2. Rotterdam Conference (1974). 2d International Workshop on Human Gene Mapping. Report of the committee on unassigned syntenic groups and theoretical considerations.

Human gene mapping 5. Edinburgh conference (1979). Fifth International Workshop on Human Gene Mapping.

Report of the first international workshop on human chromosome 12 mapping.

Report of the second international workshop on human chromosome 5 mapping.

Report from the Human Genetic Mutant Cell Repository to the Fourth International Workshop on Human Gene Mapping (Winnipeg, 1977).

Gene assignments to the presumptive homologs of human chromosomes 3, 4, 5, 7, 8, 10, 18, 19, 20, and 21 in the Pongidae and Cercopithecoidea.

Report of the First International Workshop on Human Chromosome 2 mapping 1991.

Regional assignment of genes on human chromosomes 11 and 12.

Meeting report on membrane transport and metabolism 4th International Congress on Amino Acids Vienna, Austria, August 7-11, 1995.

Report of the committee on the genetic constitution of chromosome 19.

Report of the Second International Workshop on Human Chromosome 19 mapping 1992.

Report on the 8th international workshop on the CCN family of genes - Nice November 3-8, 2015.

First International Workshop on Human Gene Transfer.

Localization of growth arrest-specific genes on mouse chromosomes 1, 7, 8, 11, 13, and 16.

Erratum to: 8th international workshop on the CCN family of genes-Nice November 3-8, 2015.

8th international workshop on the CCN family of genes-Nice November 3-8, 2015.

Genetic mapping of the human tryptophan hydroxylase gene on chromosome 11, using an intronic conformational polymorphism.

Mapping of the gene family for human heat-shock protein 90 alpha to chromosomes 1, 4, 11, and 14.

Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, 11-12 July 2014.

Fine mapping and single nucleotide polymorphism effects estimation on pig chromosomes 1, 4, 7, 8, 17 and X.