Organization and evolution of a gene-rich region of the mouse genome: a 12.7-Mb region deleted in the Del(13)Svea36H mouse.
Journal Article (Journal Article)
Del(13)Svea36H (Del36H) is a deletion of approximately 20% of mouse chromosome 13 showing conserved synteny with human chromosome 6p22.1-6p22.3/6p25. The human region is lost in some deletion syndromes and is the site of several disease loci. Heterozygous Del36H mice show numerous phenotypes and may model aspects of human genetic disease. We describe 12.7 Mb of finished, annotated sequence from Del36H. Del36H has a higher gene density than the draft mouse genome, reflecting high local densities of three gene families (vomeronasal receptors, serpins, and prolactins) which are greatly expanded relative to human. Transposable elements are concentrated near these gene families. We therefore suggest that their neighborhoods are gene factories, regions of frequent recombination in which gene duplication is more frequent. The gene families show different proportions of pseudogenes, likely reflecting different strengths of purifying selection and/or gene conversion. They are also associated with relatively low simple sequence concentrations, which vary across the region with a periodicity of approximately 5 Mb. Del36H contains numerous evolutionarily conserved regions (ECRs). Many lie in noncoding regions, are detectable in species as distant as Ciona intestinalis, and therefore are candidate regulatory sequences. This analysis will facilitate functional genomic analysis of Del36H and provides insights into mouse genome evolution.
Full Text
Duke Authors
Cited Authors
- Mallon, A-M; Wilming, L; Weekes, J; Gilbert, JGR; Ashurst, J; Peyrefitte, S; Matthews, L; Cadman, M; McKeone, R; Sellick, CA; Arkell, R; Botcherby, MRM; Strivens, MA; Campbell, RD; Gregory, S; Denny, P; Hancock, JM; Rogers, J; Brown, SDM
Published Date
- October 2004
Published In
Volume / Issue
- 14 / 10A
Start / End Page
- 1888 - 1901
PubMed ID
- 15364904
Pubmed Central ID
- PMC524412
International Standard Serial Number (ISSN)
- 1088-9051
Digital Object Identifier (DOI)
- 10.1101/gr.2478604
Language
- eng
Conference Location
- United States