对一个编码新型跨膜蛋白的人类基因进行鉴定、表征及精确图谱绘制，该基因来自腭心面综合征中缺失的22q11区域。

Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome.

作者信息

Sirotkin H, Morrow B, Saint-Jore B, Puech A, Das Gupta R, Patanjali S R, Skoultchi A, Weissman S M, Kucherlapati R

机构信息

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

出版信息

Genomics. 1997 Jun 1;42(2):245-51. doi: 10.1006/geno.1997.4734.

DOI:10.1006/geno.1997.4734

PMID:9192844

Abstract

Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, conotruncal heart defects, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80-85% of VCFS/DGS patients. Using a cDNA selection protocol, we have identified a new gene, TMVCF (transmembrane protein deleted in VCFS), which maps to the deleted interval. The genomic locus is positioned between polymorphic markers D22S944 and D22S941. TMVCF encodes a small protein of 219 amino acids that is predicted to contain two membrane-spanning domains. TMVCF is expressed abundantly in human adult lung, heart, and skeletal muscle, and transcripts can be detected at least as early as Day 9 of mouse development.

摘要

腭心面综合征（VCFS）和迪乔治综合征（DGS）的特征是具有广泛的表型，包括腭裂、圆锥动脉干心脏缺陷和面部畸形。80%至85%的VCFS/DGS患者检测到22q11染色体部分的半合子性。使用cDNA筛选方案，我们鉴定了一个新基因TMVCF（在VCFS中缺失的跨膜蛋白），它定位于缺失区间。基因组位点位于多态性标记D22S944和D22S941之间。TMVCF编码一个由219个氨基酸组成的小蛋白，预计含有两个跨膜结构域。TMVCF在人类成年肺、心脏和骨骼肌中大量表达，并且至少在小鼠发育的第9天就可以检测到转录本。