Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179

被引:15
|
作者
Zhao, Q
Chen, KS
Bejjani, BA
Lupski, JR
机构
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[3] Texas Childrens Hosp, Houston, TX 77030 USA
关键词
D O I
10.1006/geno.1998.5285
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
ZNF179, a RING finger protein encoding gene, has been mapped within the critical deletion region for Smith-Magenis syndrome (SRIS), a disorder characterized by mental retardation and multiple congenital anomalies associated with del(17)(p11.2). Here me report the cloning of Znf179, the mouse homologue of ZNF179, and characterization of its gene structure. The 3028-bp cDNA has a 1.9-kb open reading frame that contains a RING finger domain at its N-terminus and an alanine-rich and glycine-rich domain at its C-terminus. Znf179 genomic sequence includes 15 introns and spans about 10 kb on mouse chromosome 11, which maintains conserved synteny with human 17p. Northern analysis indicates that Znf179 is predominantly expressed in brain and testis. Although contained within the SMS common deletion interval, FISH experiments show that ZNF179 is not deleted in two SMS patients with smaller deletions. (C) 1998 Academic Press.
引用
收藏
页码:394 / 400
页数:7
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