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

Research output: Contribution to journalArticlepeer-review

106 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)122-128
Number of pages7
JournalNature Genetics
Volume8
Issue number2
DOIs
Publication statusPublished - 1994 Oct

ASJC Scopus subject areas

  • Genetics

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