Genomic anatomy of the Tyrp1 (brown) deletion complex

Ian M Smyth, Laurens Wilming, Angela W Lee, Martin S Taylor, Phillipe Gautier, Karen Barlow, Justine Wallis, Sancha Martin, Rebecca Glithero, Ben Phillimore, Sarah Pelan, Rob Andrew, Karen Holt, Ruth Taylor, Stuart McLaren, John Burton, Jonathon Bailey, Sarah Sims, Jan Squares, Bob PlumbAnn Joy, Richard Gibson, James Gilbert, Elizabeth Hart, Gavin Laird, Jane Loveland, Jonathan Mudge, Charlie Steward, David Swarbreck, Jennifer Harrow, Philip North, Nicholas Leaves, John Greystrong, Maria Coppola, Shilpa Manjunath, Mark Campbell, Mark Smith, Gregory Strachan, Calli Tofts, Esther Boal, Victoria Cobley, Giselle Hunter, Christopher Kimberley, Daniel Thomas, Lee Cave-Berry, Paul Weston, Marc R M Botcherby, Sharon White, Ruth Edgar, Sally H Cross, Marjan Irvani, Holger Hummerich, Eleanor H Simpson, Dabney Johnson, Patricia R Hunsicker, Peter F R Little, Tim Hubbard, R Duncan Campbell, Jane Rogers, Ian J Jackson

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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.
Original languageEnglish
Pages (from-to)3704-9
Number of pages6
JournalProceedings of the National Academy of Sciences (PNAS)
Issue number10
Publication statusPublished - 2006


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