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

被引：93

作者：

Sirotkin, H

Morrow, B

SaintJore, B

Puech, A

DasGupta, R

Patanjali, SR

Skoultchi, A

Weissman, SM

Kucherlapati, R

机构：

[1] YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT CELL BIOL,BRONX,NY 10461

[2] YALE UNIV,SCH MED,BOYER CTR MOL MED,NEW HAVEN,CT 06540

来源：

GENOMICS | 1997年 / 42卷 / 02期

关键词：

DIGEORGE-SYNDROME; STRUCTURE PREDICTION; CDNA SELECTION; DNA FRAGMENTS; DELETIONS; MICRODELETIONS;

D O I：

10.1006/geno.1997.4734

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：

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. TRIVCF 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. (C) 1997 Academic Press.

引用

页码：245 / 251

页数：7

共 31 条

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