title: Organization and evolution of a gene-rich region of the mouse genome: a 12.7-Mb region deleted in the Del(13)Svea36H mouse.
abstract: 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.
authors.affiliation: Medical Research Council Mammalian Genetics Unit, Harwell, Oxfordshire, United Kingdom.
authors.forename: Ann-Marie
authors.initials: AM
authors.lastname: Mallon
authors.forename: Laurens
authors.initials: L
authors.lastname: Wilming
authors.forename: Joseph
authors.initials: J
authors.lastname: Weekes
authors.forename: James G R
authors.initials: JG
authors.lastname: Gilbert
authors.forename: Jennifer
authors.initials: J
authors.lastname: Ashurst
authors.forename: Sandrine
authors.initials: S
authors.lastname: Peyrefitte
authors.forename: Lucy
authors.initials: L
authors.lastname: Matthews
authors.forename: Matthew
authors.initials: M
authors.lastname: Cadman
authors.forename: Richard
authors.initials: R
authors.lastname: McKeone
authors.forename: Chris A
authors.initials: CA
authors.lastname: Sellick
authors.forename: Ruth
authors.initials: R
authors.lastname: Arkell
authors.forename: Marc R M
authors.initials: MR
authors.lastname: Botcherby
authors.forename: Mark A
authors.initials: MA
authors.lastname: Strivens
authors.forename: R Duncan
authors.initials: RD
authors.lastname: Campbell
authors.forename: Simon
authors.initials: S
authors.lastname: Gregory
authors.forename: Paul
authors.initials: P
authors.lastname: Denny
authors.forename: John M
authors.initials: JM
authors.lastname: Hancock
authors.forename: Jane
authors.initials: J
authors.lastname: Rogers
authors.forename: Steve D M
authors.initials: SD
authors.lastname: Brown
mesh_terms: D000818:Animals; D019143:Evolution, Molecular; D016678:Genome; D051379:Mice; D005810:Multigene Family; D017384:Sequence Deletion