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PMID: 11779826 Published · ppublish English Comparative Study Journal Article Research Support, U.S. Gov't, P.H.S.

Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.

Genome research ·Vol. 12 ·No. 1 ·2002-01-00 ·Pages 3-15

DeSilva U, Elnitski L, Idol JR, Doyle JL, Gan W, Thomas JW, Schwartz S, Dietrich NL, Beckstrom-Sternberg SM, McDowell JC, Blakesley RW, Bouffard GG, Thomas PJ, Touchman JW, Miller W, Green ED

Abstract

Williams syndrome is a complex developmental disorder that results from the heterozygous deletion of a approximately 1.6-Mb segment of human chromosome 7q11.23. These deletions are mediated by large (approximately 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 approximately 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, 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.

MeSH Terms
Animals Base Composition Chromosomes, Human, Pair 7/genetics Conserved Sequence/genetics Humans Mice Molecular Sequence Data Physical Chromosome Mapping Sequence Analysis, DNA/methods Sequence Homology, Nucleic Acid Williams Syndrome/genetics
Authors & Affiliations
16 authors, click to expand affiliations / ORCID
DeSilva Udaya
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Elnitski Laura
Idol Jacquelyn R
Doyle Johannah L
Gan Weiniu
Thomas James W
Schwartz Scott
Dietrich Nicole L
Beckstrom-Sternberg Stephen M
McDowell Jennifer C
Blakesley Robert W
Bouffard Gerard G
Thomas Pamela J
Touchman Jeffrey W
Miller Webb
Green Eric D
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Article Info
Journal
Genome research
Abbr.
Genome Res
ISSN
1088-9051
DOI
10.1101/gr.214802
Published
2002-01-00
Pages
3-15
Language
English
Region
United States
NLM ID
9518021
PMCID
PMC155257
Subset
IM
Grants
NHGRI NIH HHS · F32 HG002325 · United States
NHGRI NIH HHS · R01 HG002238 · United States
NHGRI NIH HHS · HG02238 · United States
NHGRI NIH HHS · HG02325-01 · United States
Databases
GENBANK
AC024607, AC024608, AC074359, AC079872, AC079938, AC080158, AC083857, AC083858, AC083889, AC083890, AC083948, AC084109, AC084162, AC084402, AC087420, AC091250, AF267747, AF289664, AF289665, AF289666, AF289667
External Links
PubMed source DOI: 10.1101/gr.214802 PMC Full Text View journal details
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