International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)

Table of Contents * Complex Genetics * Developmental Genetics * Gene Annotation * Gene Discovery * Genome Sequencing * Functional Genomics * Mutagenesis * Presentations * Verne Chapman Memorial Lecture

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POSTER 188 -  MAPPING AND NOVEL GENE IDENTIFICATION WITHIN THE IDS TO DMD REGION OF THE MOUSE X CHROMOSOME

Miss Rachael Bate
Medical Research Council
MRC Mouse Genome Centre
Harwell, Didcot
Oxon OX11 0RD

Co-Authors:  2)Straw R, 1)Mallon A-M, 2)Botchery M, 2)Campbell D, 1)Denny P, 1)Brown S
Institutions: 1)MRC Harwell, 2)MRC HGMP-RC, Hinton

Comparison of mouse and homologous human sequence allows us to use sequence conservation, alongside gene and exon prediction packages, to identify genes. Two regions have been focused upon for physical mapping, sequencing and the subsequent identification of genes. The first region of interest is between DXHXS1104 and DXHXS52. Comparative sequence analysis identified a number of evolutionary conserved regions, ECRs, indicating the presence of at least four additional putative genes in the region. Expression studies have been carried out to characterise twenty ECRs.

The second region between F8 and Dmd spans two evolutionary breakpoints, as it is homologous to Xq28, Xp22.3 and Xp21.3-2 in man. Detailed genetic and RH mapping were performed to facilitate physical mapping, from which selected clones were sequenced. A putative gene was identified through homology to six mouse ESTs. Detailed expression studies were performed, revealing a transcript of 4.6kb in various tissues. A putative human homologue of this gene was discovered, through sequence similarity to the protein kinase genes PKX1 and PKY1. Comparative analysis of the sequences surrounding the breakpoint regions in mouse and human was also performed, including a comparison to other published breakpoint regions, with the aim of identifying elements that may be associated with all breakpoints, and may therefore be important in the evolutionary rearrangement of the genome.