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
نویسندگان
چکیده
Udaya DeSilva, Laura Elnitski, Jacquelyn R. Idol, Johannah L. Doyle, Weiniu Gan, James W. Thomas, Scott Schwartz, Nicole L. Dietrich, Stephen M. Beckstrom-Sternberg, Jennifer C. McDowell, Robert W. Blakesley, Gerard G. Bouffard, Pamela J. Thomas, Jeffrey W. Touchman, Webb Miller, and Eric D. Green Genome Technology Branch, National Human Genome Research Institute and NIH Intramural Sequencing Center, National Institutes of Health, Bethesda, Maryland 20892, USA; Department of Computer Science and Engineering, Pennsylvania State University, University Park, Pennsylvania 16802, USA
منابع مشابه
Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5.
Chromosome 7q22 has been the focus of many cytogenetic and molecular studies aimed at delineating regions commonly deleted in myeloid leukemias and myelodysplastic syndromes. We have compared a gene-dense, GC-rich sub-region of 7q22 with the orthologous region on mouse chromosome 5. A physical map of 640 kb of genomic DNA from mouse chromosome 5 was derived from a series of overlapping bacteria...
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Background: Mammals utilise an XX/XY system of sex determination in which the Y-linked gene SRY (Sexdetermining region Y) exerts a dominant masculinising influence on sexual development. Sex chromosome homology and comparative sequence studies suggest that SRY evolved from the related SOX3 gene on the X chromosome, although there is no direct functional evidence to support this hypothesis. The ...
متن کامل[Chromosome 7q11.23 duplication syndrome. First reported case in Latin America].
7q11.23 duplication syndrome is a disease caused by duplication of a region of chromosome 7 comprising 26 genes. The first case described in the literature was reported by Somerville et al. in 2005, who described a patient with dolichocephaly, high and narrow forehead, long eyelashes, high and wide nose, short philtrum, high arched palate, dental malocclusion, retrognathia, and severe language ...
متن کاملGTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.
Williams-Beuren syndrome (also known as Williams syndrome) is caused by a deletion of a 1.55- to 1.84-megabase region from chromosome band 7q11.23. GTF2IRD1 and GTF2I, located within this critical region, encode proteins of the TFII-I family with multiple helix-loop-helix domains known as I repeats. In the present work, we characterize a third member, GTF2IRD2, which has sequence and structural...
متن کاملReciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
BACKGROUND Several copy number variants (CNVs) have been implicated as susceptibility factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism spectrum disorders, suggesting an etiologic overlap between these conditions. Recently, de novo duplications of a region on chromosome 7q11.23 were associated with autism spectrum disorders. The reciprocal deletion of this re...
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