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Publication : Genomic anatomy of the Tyrp1 (brown) deletion complex.

First Author  Smyth IM Year  2006
Journal  Proc Natl Acad Sci U S A Volume  103
Issue  10 Pages  3704-9
PubMed ID  16505357 Mgi Jnum  J:107243
Mgi Id  MGI:3620449 Doi  10.1073/pnas.0600199103
Citation  Smyth IM, et al. (2006) Genomic anatomy of the Tyrp1 (brown) deletion complex. Proc Natl Acad Sci U S A 103(10):3704-9
abstractText  Chromosome deletions in the mouse have proven invaluable in the dissection of gene function. The brown deletion complex comprises >28 independent genome rearrangements, which have been used to identify several functional loci on chromosome 4 required for normal embryonic and postnatal development. We have constructed a 172-bacterial artificial chromosome contig that spans this 22-megabase (Mb) interval and have produced a contiguous, finished, and manually annotated sequence from these clones. The deletion complex is strikingly gene-poor, containing only 52 protein-coding genes (of which only 39 are supported by human homologues) and has several further notable genomic features, including several segments of >1 Mb, apparently devoid of a coding sequence. We have used sequence polymorphisms to finely map the deletion breakpoints and identify strong candidate genes for the known phenotypes that map to this region, including three lethal loci (l4Rn1, l4Rn2, and l4Rn3) and the fitness mutant brown-associated fitness (baf). We have also characterized misexpression of the basonuclin homologue, Bnc2, associated with the inversion-mediated coat color mutant white-based brown (B(w)). This study provides a molecular insight into the basis of several characterized mouse mutants, which will allow further dissection of this region by targeted or chemical mutagenesis.
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