Mapping of loci and translocation breakpoints in Xq13: isolation of a conserved locus that maps close to CCG1 in human and mouse

Comparative mapping studies have shown that there is conservation of gene order in the interval between the AR (androgen receptor) and PGK1 (phosphoglycerate kinase) loci on the human and murine X Chromosome. This region is of particular interest because it contains loci implicated in several mouse...

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Bibliographic Details
Published in:Mammalian genome 1994-04, Vol.5 (4), p.237-240
Main Authors: Reed, V, Laval, S H, McCabe, V, Willard, H F, Boyd, Y
Format: Article
Language:English
Subjects:
Animals
Base Sequence
breakpoints
Cell Cycle - genetics
Chromosome Mapping
Conserved Sequence
Crosses, Genetic
DNA Primers
Genetic Markers
Haplotypes - genetics
Hominidae - genetics
Humans
linkage
loci
man
mapping
mice
Mice - genetics
Molecular Sequence Data
Polymerase Chain Reaction
Recombination, Genetic
translocation
Translocation, Genetic
X Chromosome
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Summary:Comparative mapping studies have shown that there is conservation of gene order in the interval between the AR (androgen receptor) and PGK1 (phosphoglycerate kinase) loci on the human and murine X Chromosome. This region is of particular interest because it contains loci implicated in several mouse mutant phenotypes that may provide suitable animal models for human genetic disorders. So far, only mutations at the AR locus (Ar) have been shown to be responsible for the same disorder (testicular feminization) in human and mouse. However, phenotypic similarities, in combination with mapping and biochemical data, suggest that the mouse mutants mottled and tabby are caused by mutations in the loci homologous to Menkes' syndrome and ectodermal dysplasia respectively. Nevertheless, for many of the human disorders in this region there are, as yet, no putative mouse models, and likewise many of the mouse mutations have no recognized human homologs. The identification of further conserved loci in this region will allow the resolution of the comparative map to be improved and may provide access to loci responsible for mutant phenotypes in mouse and human. We have, therefore, isolated and characterized four novel human clones from three cosmids thought to originate from Xq13-Xq24 and screened for the presence of conserved sequences within these clones (Laval and Boyd 1993).
ISSN:0938-8990
1432-1777
DOI:10.1007/BF00360553