A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p

doi:10.1016/0888-7543(91)90082-P

Genomics

Volume 11, Issue 3, November 1991, Pages 737-743

https://doi.org/10.1016/0888-7543(91)90082-P Get rights and content

Abstract

To identify by reverse genetics genes on the short arm of human chromosome 7 expected to be involved in the regulation of human craniofacial and limb development, we have set up a human mouse somatic cell hybrid panel that divides 7p into 9 fragments. The breakpoints are defined by deletions or translocations involving one chromosome 7 in the cells of the human cell fusion partners. Particularly densely covered with these cytogenetic anchor points is the proximal area of 7p within and around 7p13. The number of cytogenetic mapping points within proximal 7p could be increased by four, using two diploid human cell lines with small interstitial deletions in this region for dosage studies. We used Southern blots of this panel to assign to 7q or subregions of 7p more than 300 arbitrary DNA probes or genes that provide reference points for physical mapping of 7p. Three reciprocal translocations with one of the break-points in 7p13 mark the location of a gene involved in Greig cephalopolysyndactyly syndrome. To define an area in which we could identify candidates for this developmental gene, we established a macrorestriction map using probes flanking the putative gene region. The Greig translocations were found to be located within a 630-kb NotI restriction fragment.

References (41)

H. Donis-Keller et al.
A genetic linkage map of the human genome
Cell
(1987)
H. Drabkin et al.
Regional and physical mapping studies characterizing the Greig polysyndactyly 3;7 chromosome translocation (3;7)(p21.1;p13)
Genomics
(1989)
M. Gessler et al.
Molecular mapping and cloning of the breakpoints of a chromosome 11p14.1–11p13 deletion associated with the AGR syndrome
Genomics
(1988)
M. Julkunen et al.
Primary structure of human insulin-like growth factor binding protein/placental protein 12 and tissue-specific expression of its mRNA
FEBS Lett
(1988)
J. Peters et al.
Localization of Blvr, biliverdin reductase, on mouse chromosome 2
Genomics
(1989)
C.L. Smith et al.
Strategies for mapping and cloning macroregions of mammalian genomes
R. Van Der Meer-De Jong et al.
Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2)
Genomics
(1990)
K. Wagner et al.
Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: Hemizygosity for PGAM2 and TCRG genes
Genomics
(1990)
W. Bauch et al.
Regional assignment of the gene for human β-glucuronidase by the use of human-mouse cell hybrids
Cytogenet. Cell Genet
(1978)
K. Bender et al.
Possible assignment of the glyoxalase I (GLO) gene to chromosome 6 using man-mouse somatic cell hybrids
Humangenetik
(1976)

W.D. Benton et al.

Screening lambda gt recombinant clones by hybridization to single plaques in situ

Science

(1977)

Y. Boyd et al.

Muscular dystrophy in girls with X;autosome translocations

J. Med. Genet

(1986)

L. Brueton et al.

Chromosomal localization of a developmental gene in man: Direct DNA analysis demonstrates that Greig cephalosyndactyly maps to 7p13

Am. J. Med. Genet

(1988)

C.M. Croce et al.

Somatic cell hybrids between mouse peritoneal macrophages and SV40 transformed human cells. I. Positive control of the transformed phenotype by the human chromosome 7 carrying the SV40 genome

J. Exp. Med

(1974)

L. Deaven et al.

Construction of human chromosome-specific DNA libraries from flowsorted chromosomes

X. Estiyill et al.

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Nature

(1987)

T. Glaser et al.

A mouse model of the aniridia-Wilms tumor deletion syndrome

Science

(1990)

D.M. Greig

Oxycephaly

Edinburgh Med. J

(1926)

C. Helms et al.

A new method for purifying lambda DNA from phage lysates

DNA

(1985)

H.J.E. Hendrinks et al.

Acrocallosal syndrome

Am. J. Med. Genet

(1990)

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¹: Present address: Department of Medical Genetics, Ullevaal Hospital, P.B. 1036 Blindern, 0315 Oslo, Norway.

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A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p

Abstract

Cell

Genomics

Genomics

FEBS Lett

Genomics

Genomics

Genomics

Regional assignment of the gene for human β-glucuronidase by the use of human-mouse cell hybrids

Cytogenet. Cell Genet

Possible assignment of the glyoxalase I (GLO) gene to chromosome 6 using man-mouse somatic cell hybrids

Humangenetik

Screening lambda gt recombinant clones by hybridization to single plaques in situ

Science

Muscular dystrophy in girls with X;autosome translocations

J. Med. Genet

Chromosomal localization of a developmental gene in man: Direct DNA analysis demonstrates that Greig cephalosyndactyly maps to 7p13

Am. J. Med. Genet

Somatic cell hybrids between mouse peritoneal macrophages and SV40 transformed human cells. I. Positive control of the transformed phenotype by the human chromosome 7 carrying the SV40 genome

J. Exp. Med

Construction of human chromosome-specific DNA libraries from flowsorted chromosomes

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Nature

A mouse model of the aniridia-Wilms tumor deletion syndrome

Science

Oxycephaly

Edinburgh Med. J

A new method for purifying lambda DNA from phage lysates

DNA

Acrocallosal syndrome

Am. J. Med. Genet