ISOLATION AND CHARACTERIZATION OF MUTATIONS IN THE HUMAN HOLOCARBOXYLASE SYNTHETASE CDNA

被引：115
|
作者：
SUZUKI, Y
AOKI, Y
ISHIDA, Y
CHIBA, Y
IWAMATSU, A
KISHINO, T
NIIKAWA, N
MATSUBARA, Y
NARISAWA, K
机构：
[1] KIRIN BREWERY CO LTD, KEY TECHNOL LABS, YOKOHAMA, KANAGAWA 236, JAPAN
[2] NAGASAKI UNIV, SCH MED, DEPT HUMAN GENET, NAGASAKI 852, JAPAN
来源：
NATURE GENETICS | 1994年 / 8卷 / 02期
关键词：
D O I：
10.1038/ng1094-122
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Holocarboxylase synthetase (HCS) plays an essential role in biotin utilization in eukaryotic cells and its deficiency causes biotin-responsive multiple carboxylase deficiency in humans. We have cloned the human HCS cDNA and show that antiserum against the recombinant protein immunoprecipitates human HCS. A one base deletion resulting in a premature termination and a missense mutation (Leu to Pro) were found in cells from siblings with HCS deficiency. Human HCS shows homology to BirA, which acts as both a biotin-[acetyl-CoA-carboxylase] ligase and a biotin repressor in E. coli, suggesting a functional relationship between the two proteins. The human HCS gene maps to chromosome 21q22.1.
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页码：122 / 128
页数：7
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