International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


Dr Laura Elnitski
The Pennsylvania State University
206 Althouse Lab
University Park

Co-Authors: 1)DeSilva U, 1)Idol J 1)Doyle J,  2)Gan W, 1)Thomas J, 3)Schwartz S, 2)Dietrich N, 2) Beckstrom-Sternberg S, 2)McDowell J, 2)Blakesley R, 2)Bouffard G, 2)Thomas P, 2)Touchman J, 3) Webb Miller 1,2)Green E
Institutions: 1) Genome Technology Branch, National Human Genome Research Institute  2) NIH Intramural Sequencing Center, National Institutes of Health, 3) Department of Computer Science and Engineering, Pennsylvania State University

Comparative sequence analysis identifies 6 new genes in the williams-beuren commonly deleted region

Comparative sequence analysis facilitates the identification of conserved elements found in orthologous regions of genomic DNA.  Frequently, alignment of human and mouse sequences identifies coding exons as regions with 80% (or greater) identity between an orthologue pair.  Additional regions of homology appear as conserved noncoding sequences located within and between genes, representing putative regulatory elements and uncharacterized genes.

We aligned 1.4 Mb of mouse chromosome 5 to the orthologous region of human chromosome 7q11.23 involved in Williams-Beuren Syndrome (WS), a complex neorodevelopmental disorder arising from a microdeletion event that is mediated by duplicated blocks that flank a 1.5 Mb region in human, but are absent in mouse.

Our analysis identifies seven new genes within the commonly deleted region that are present in both human and mouse. We present putative amino acid sequences, conserved domains, and regulatory elements of the new genes, plus an analysis of genomic structure and evolution of the WS region based on the comparative study.  An electronic supplement generated via the PipMaker server allows the inclusion of additional information via hyperlinks embedded within the pairwise alignment.

Annotation of new genes and conserved elements creates a more complete picture of the disease region, increasing the total number of genes and facilitating the construction of mouse models of the disease.

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