Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

Yoichi Suzuki, Yoko Aoki, Yoshinori Ishida, Yasushi Chiba, Akihiro Iwamatsu, Tatsuya Kishino, Norio Niikawa, Yoichi Matsubara, Kuniaki Narisawa

研究成果: Article査読

106 被引用数 (Scopus)

抄録

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 represser in E. coli, suggesting a functional relationship between the two proteins. The human HCS gene maps to chromosome 21q22.1.

本文言語English
ページ(範囲)122-128
ページ数7
ジャーナルNature Genetics
8
2
DOI
出版ステータスPublished - 1994 10

ASJC Scopus subject areas

  • Genetics

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