GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide.
CATCH 22 syndromes, which include DiGeorge syndrome and Velocardiofacial syndrome, are the most common cause of congenital heart disease which involve microdeletion of 22q11. Using a strategy including EST searching, PCR amplification and 5'-RACE, we have cloned a 1487 bp cDNA fragment from human heart cDNA library. The cloned GNB1L cDNA encodes a G-protein beta-subunit-like polypeptide, and the GNB1L gene is located in the critical region for DiGeorge syndrome. A comparison of GNB1L cDNA sequence with corresponding genomic DNA sequence revealed that this gene consists of seven exons and spans an approximately 60 kb genomic region. Northern blot analysis revealed GNB1L is highly expressed in the heart.
Gong
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Research Center for Cardiovascular Diseases, Institute of Molecular Medicine for the Prevention of Human Disease, the University of Texas- Houston Health Science Center, 77030, USA. limin.gong@uth.tmc.edu
Liu
M
M
Jen
J
J
Yeh
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D000595:Amino Acid Sequence; D001483:Base Sequence; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003001:Cloning, Molecular; D004062:DiGeorge Syndrome / Q000235:genetics*; D005091:Exons / Q000235:genetics; D020224:Expressed Sequence Tags; D020869:Gene Expression Profiling; D020962:Heterotrimeric GTP-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009206:Myocardium / Q000378:metabolism; D020161:Physical Chromosome Mapping; D021122:Protein Subunits; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D016415:Sequence Alignment
D021122:Protein Subunits; D012333:RNA, Messenger; D020962:Heterotrimeric GTP-Binding Proteins