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Vol. 12, Issue 1, 3-15, January 2002

REPORTS
Generation and Comparative Analysis of ~3.3 Mb of Mouse Genomic Sequence Orthologous to the Region of Human Chromosome 7q11.23 Implicated in Williams Syndrome

Udaya DeSilva,1,4,5 Laura Elnitski,3,4 Jacquelyn R. Idol,1 Johannah L. Doyle,1 Weiniu Gan,2,6 James W. Thomas,1 Scott Schwartz,3 Nicole L. Dietrich,2 Stephen M. Beckstrom-Sternberg,1,2 Jennifer C. McDowell,2 Robert W. Blakesley,1,2 Gerard G. Bouffard,1,2 Pamela J. Thomas,2 Jeffrey W. Touchman,1,2 Webb Miller,3 and Eric D. Green1,2,7

1 Genome Technology Branch, National Human Genome Research Institute and 2 NIH Intramural Sequencing Center, National Institutes of Health, Bethesda, Maryland 20892, USA; 3 Department of Computer Science and Engineering, Pennsylvania State University, University Park, Pennsylvania 16802, USA

Williams syndrome is a complex developmental disorder that results from the heterozygous deletion of a ~1.6-Mb segment of human chromosome 7q11.23. These deletions are mediated by large (~300 kb) duplicated blocks of DNA of near-identical sequence. Previously, we showed that the orthologous region of the mouse genome is devoid of such duplicated segments. Here, we extend our studies to include the generation of ~3.3 Mb of genomic sequence from the mouse Williams syndrome region, of which just over 1.4 Mb is finished to high accuracy. Comparative analyses of the mouse and human sequences within and immediately flanking the interval commonly deleted in Williams syndrome have facilitated the identification of nine previously unreported genes, provided detailed sequence-based information regarding 30 genes residing in the region, and revealed a number of potentially interesting conserved noncoding sequences. Finally, to facilitate comparative sequence analysis, we implemented several enhancements to the program PipMaker, including the addition of links from annotated features within a generated percent-identity plot to specific records in public databases. Taken together, the results reported here provide an important comparative sequence resource that should catalyze additional studies of Williams syndrome, including those that aim to characterize genes within the commonly deleted interval and to develop mouse models of the disorder.

[The sequence data described in this paper have been submitted to GenBank under accession nos. AF267747, AF289666, AF289667, AF289664, AF289665, AC091250, AC079938, AC084109, AC024607, AC074359, AC024608, AC083858, AC083948, AC084162, AC087420, AC083890, AC080158, AC084402, AC083889, AC083857, and AC079872.]

4 These authors contributed equally to this work.

Present addresses: 5Department of Animal Science, Oklahoma State University, Stillwater, OK 74078, USA; 6Celera Genomics, Rockville, MD 20850, USA.

7 Corresponding author.

12:3-15 ©2002 by Cold Spring Harbor Laboratory Press  ISSN 1088-9051/02 $5.00
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