International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 139 - THE DEL(13)SVEA36H REGION OF CHROMOSOME 13: A GENE-DENSE REGION SUBJECT TO FREQUENT GENE DUPLICATION AND EVOLUTIONARY REARRANGEMENT

Hancock J M
Bioinformatics Group, MRC Mammalian Genetics Unit, Harwell, Oxfordshire, U.K.

Co-Authors: 1) Mallon A-M, 2) Wilming L, 1) Weekes J, 2) Ashurst J, 1) Cadman M, 1) Mc Keone R, 1) Sellick C, 1) Arkell R, 3) Botcherby M R M, 1) Strivens M A, 3) Campbell R D, 2) Gregory S, 1) Denny P, 2) Rogers J, 1) Brown SDM.
Institutions: 1) Bioinformatics Group, MRC Mammalian Genetics Unit, Harwell, Oxfordshire, U.K., 2) Sanger Institute, Hinxton Genome Campus, U.K., 3) MRC UK-HGMP Resource Centre, Hinxton Genome Campus, U.K.

As part of the MRC UK Mouse Genome Sequencing Project we have generated a finished, high quality sequence of the Del(13)Svea36H region of mouse chromosome 13 and annotated it using manual and comparative methods. The region is 12.5Mb long and contains 237 genes, approximately one gene every 53 kb, or twice the density observed in the mouse genome as a whole. It also contains c. 90 pseudogenes. Overall, 37.5% of the sequence is genic. The region contains regions syntenic to three human chromosome regions: 6p22.1-6p22.3, 6p25.3-end and 3q24. These are interrupted by relatively short regions with no detectable homology to human chromosome regions and no detectably unusual sequence features. Both gene numbers and percentage coverage by genes varies over the region. Notably, there are three regions rich in large gene families: one containing histone and vomeronasal receptor (V1r) clusters, one containing a prolactin cluster and a third containing a serpin cluster. All except the histone clusters are much larger in mouse than human. Analysis of the organisation of members of the families support the suggestion that unequal crossing-over has been the main force driving their esxpansion, while analysis of pseudogene frequencies indicates differing strengths of selection acting on the different families. The expanded families lie in regions enriched in transposable elements, suggesting a role for these elements in stimulating recombinational amplification. We outline a possible evolutionary process involving “gene factories” which may explain the origins and characteristics of these enlarged gene families.


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