Human Homology and Candidate Genes for theDominant megacolonLocus, a Mouse Model of Hirschsprung Disease

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• 作者：Pingault ; Vé ; ronique ; Puliti ; Aldamaria ; Pré ; hu ; Marie-Odette ; Samadi ; Abbas ; et. al.
• 刊名：Genomics
• 出版年：1997
• 出版时间：January 1, 1997
• 年：1997
• 卷：39
• 期：1
• 页码：86-89
• 全文大小：111 K

文摘

Hirschsprung disease (HSCR) is a congenital disorder of the enteric nervous system characterized by the absence of enteric ganglia. Three genes for HSCR have been identified: theRETproto-oncogene, the gene coding for the endothelin B receptor (EDNRB), and the endothelin 3 gene (EDN3). In mice, natural andin vitro-induced mutations affecting theRet, Ednrb,andEdn3genes generate a phenotype similar to human HSCR. Another model of HSCR disease is theDominant megacolon(Dom), a spontaneous mouse mutation for which the target gene has not yet been identified. TheDommutation has been mapped to the middle-terminal region of mouse chromosome 15, betweenD15Mit68andD15Mit2.Using new or known polymorphisms for conserved human/mouse genes, we established the homology between theDomlocus and human chromosome 22q12–q13. Two genes,Smstr3andAdsl,not previously mapped in the mouse genome, were located on mouse Chromosome 15. Three genes (Smstr3, Lgals1,andPdgfb) are possibleDomcandidates, as they do not recombine with theDommutation in a 252Dom/+ animal backcross.