A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region

Naomi Galili, H. Scott Baldwin, Jim Lund, Roger H Reeves, Weilong Gong, Zhili Wang, Bruce A. Roe, Beverly S. Emanuel, Sudhir Nayak, Craig Mickanin, Marcia L. Budarf, Clayton A. Buck

Research output: Contribution to journalArticle

Abstract

DGS and VCPS, haploinsufficiencies characterized by multiple craniofacial and cardiac abnormalities, are associated with a microdeletion of chromosome 22q11.2. Here we document synteny between a 150-kb region on mouse chromosome 16 and the most commonly deleted portion of 22q11.2. Seven genes, all of which are transcribed in the early mouse embryo, have been identified. Of particular interest are two serine/threonine kinase genes and a novel goosecoid-like homeobox gene (Gscl). Comparative sequence analysis of a 38-kb segment reveals similarities in gene content, order, exon composition, and transcriptional direction. Therefore, if deletion of these genes results in DGS/VCFS in humans, then haploinsufficiencies involving this region of chromosome 16 should recapitulate the developmental field defects characteristic of this syndrome.

Original languageEnglish (US)
Pages (from-to)17-26
Number of pages10
JournalGenome Research
Volume7
Issue number1
Publication statusPublished - Jan 1997

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ASJC Scopus subject areas

  • Genetics

Cite this

Galili, N., Baldwin, H. S., Lund, J., Reeves, R. H., Gong, W., Wang, Z., ... Buck, C. A. (1997). A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region. Genome Research, 7(1), 17-26.