生物
同源盒
间充质
遗传学
基因
转录因子
EMX2型
解剖
胚胎
作者
Elena V. Semina,Rebecca S. Reiter,Nancy J. Leysens,Wallace L.M. Alward,Kent W. Small,Nicole A. Datson,Jacqueline Siegel‐Bartelt,Diane Bierke-Nelson,Pierre Bitoun,Bernhard Zabel,John C. Carey,J.C. Murray
出处
期刊:Nature Genetics
[Springer Nature]
日期:1996-12-01
卷期号:14 (4): 392-399
被引量:879
摘要
Rieger syndrome (REG) is an autosomal–dominant human disorder that includes anomalies of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report the human cDNA and genomic characterization of a new homeobox gene, RIEG, causing this disorder. Six mutations in RIEG were found in individuals with the disorder. The cDNA sequence of Rieg, the murine homologue of RIEG, has also been isolated and shows strong homology with the human sequence. In mouse embryos Rieg mRNA localized in the periocular mesenchyme, maxillary and mandibular epithelia, and umbilicus, all consistent with RIEG abnormalities. The gene is also expressed in Rathke's pouch, vitelline vessels and the limb mesenchyme. RIEG characterization provides opportunities for understanding ocular, dental and umbilical development and the pleiotropic interactions of pituitary and limb morphogenesis.
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