Semina E V, Reiter R, Leysens N J, Alward W L, Small K W, Datson N A, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel B U, Carey J C, Murray J C
f1partment of Pediatrics, University of Iowa, Iowa City 52242, USA.
Nat Genet. 1996 Dec;14(4):392-9. doi: 10.1038/ng1296-392.
Rieger syndrome (RIEG) 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.
里格尔综合征（RIEG）是一种常染色体显性遗传病，其症状包括眼前房异常、牙齿发育不全和脐突出。我们报告了一个导致该疾病的新同源异型盒基因RIEG的人类cDNA及基因组特征。在患有该疾病的个体中发现了RIEG的六个突变。RIEG的小鼠同源物Rieg的cDNA序列也已分离出来，并且与人类序列具有高度同源性。在小鼠胚胎中，Rieg mRNA定位于眼周间充质、上颌和下颌上皮以及脐部，所有这些都与RIEG异常情况相符。该基因也在拉特克囊、卵黄囊血管和肢体间充质中表达。RIEG的特征为理解眼睛、牙齿和脐部发育以及垂体和肢体形态发生的多效性相互作用提供了机会。
