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Genomics
Article . 1990 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
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Genomics
Article . 1990
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Close linkage of the murine locus bare patches to the X-linked visual pigment gene: Implications for mapping human X-linked dominant chondrodysplasia punctata

Authors: Sandy J. Walton; Gail E. Herman;

Close linkage of the murine locus bare patches to the X-linked visual pigment gene: Implications for mapping human X-linked dominant chondrodysplasia punctata

Abstract

The murine X-linked dominant mutation bare patches (Bpa) has a phenotype similar to and is likely homologous to human X-linked dominant chondrodysplasia punctata (CDPX2). Classic two-point linkage analysis in the mouse with distant markers suggested that Bpa maps near glucose-6-phosphate dehydrogenase (G6pd). We have confirmed the regional localization using interspecific matings with Mus spretus. We have also detected a restriction fragment length polymorphism (RFLP) at the murine X-linked visual pigment (Rsvp) locus in inbred Bpa females using the restriction enzyme PstI. Cumulative data from segregation of alleles using the PstI RFLP and analysis of interspecific backcross progeny at the Rsvp locus suggest that Bpa is tightly linked to Rsvp. Thus, the human CDPX2 gene probably maps within Xq27-Xq28 and not within Xp22.3-Xpter, where deletions associated with X-linked recessive chondrodysplasia punctata (CDPX) have been noted. This strategy should be applicable to the fine mapping of other dominant murine mutations.

Related Organizations
Keywords

Male, Chondrodysplasia Punctata, X Chromosome, Genetic Linkage, Chromosome Mapping, Glucosephosphate Dehydrogenase, Muridae, Mice, Phenotype, Genes, Animals, Humans, Female, Deoxyribonucleases, Type II Site-Specific, Retinal Pigments, Crosses, Genetic, Polymorphism, Restriction Fragment Length, Genes, Dominant

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
35
Average
Top 10%
Top 10%
gold