Cloning and chromosomal mapping of a novel abc transporter gene (habc7), a candidate for x-linked sideroblastic anemia with spinocerebellar ataxia

ABSTRACT We isolated a novel human ATP-binding cassette (ABC) transporter cDNA, determined its nucleotide sequence, and designated it human ABC7 (hABC7). The nucleotide sequence was highly

homologous to the _ATM1_ gene in yeast, which encodes an ABC transporter (yAtm1p) located in the mitochondrial inner membrane. The deduced human product, a putative half-type transporter,

consists of 752 amino acids that are 48.9% identical to those of yAtm1p. A computer-assisted protein structural and localization analysis revealed that the mitochondrial targeting signal of

yAtm1p is conserved in the N-terminal region of the primary sequence of the hABC7 protein, and therefore this product is also likely to be located in the mitochondrial inner membrane. The

evidence strongly suggests that the _hABC7_ gene is a counterpart of _ATM1_ and that its product is probably involved in heme transport. We mapped the _hABC7_ gene to chromosome Xq13.1–q13.3

by fluorescence in-situ hybridization. As band Xq13 has been implicated in X-linked sideroblastic anemia with spinocerebellar ataxia, _hABC7_ becomes a candidate gene for this heritable

disorder. SIMILAR CONTENT BEING VIEWED BY OTHERS SPINOCEREBELLAR ATAXIA TYPE 31 (SCA31) Article Open access 01 November 2022 HEXANUCLEOTIDE REPEAT EXPANSION IN SCA36 REDUCES THE EXPRESSION

OF GENES INVOLVED IN RIBOSOME BIOSYNTHESIS AND PROTEIN TRANSLATION Article 29 May 2024 NOVEL _CWF19L1_ MUTATIONS IN PATIENTS WITH SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 Article 26

September 2023 ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Otsuka GEN Research Institute, Otsuka Pharmaceutical Company Ltd., 463-10 Kagasuno, Kawauchi-cho, Tokushima 771-01,

Japan Tel. +81-886-65-2888; Fax +81-886-37-1035 e-mail: [email protected], Japan Yoshikazu Shimada, Shiro Okuno, Atushi Kawai, Hiroichi Shinomiya, Akihiko Saito, Mikio Suzuki, 

Yoshihiro Omori, Naoki Nishino, Naohide Kanemoto, Tsutomu Fujiwara, Masato Horie & E. Takahashi Authors * Yoshikazu Shimada View author publications You can also search for this author

inPubMed Google Scholar * Shiro Okuno View author publications You can also search for this author inPubMed Google Scholar * Atushi Kawai View author publications You can also search for

this author inPubMed Google Scholar * Hiroichi Shinomiya View author publications You can also search for this author inPubMed Google Scholar * Akihiko Saito View author publications You can

also search for this author inPubMed Google Scholar * Mikio Suzuki View author publications You can also search for this author inPubMed Google Scholar * Yoshihiro Omori View author

publications You can also search for this author inPubMed Google Scholar * Naoki Nishino View author publications You can also search for this author inPubMed Google Scholar * Naohide

Kanemoto View author publications You can also search for this author inPubMed Google Scholar * Tsutomu Fujiwara View author publications You can also search for this author inPubMed Google

Scholar * Masato Horie View author publications You can also search for this author inPubMed Google Scholar * E. Takahashi View author publications You can also search for this author

inPubMed Google Scholar ADDITIONAL INFORMATION Received: September 17, 1997 / Accepted: January 9, 1998 RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE

Shimada, Y., Okuno, S., Kawai, A. _et al._ Cloning and chromosomal mapping of a novel ABC transporter gene (_hABC7_), a candidate for X-linked sideroblastic anemia with spinocerebellar

ataxia. _J Hum Genet_ 43, 115–122 (1998). https://doi.org/10.1007/s100380050051 Download citation * Published: 01 June 1998 * Issue Date: June 1998 * DOI:

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currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative * Key words ABC transporter * Mitochondria * Heme * Xq13 *

X-linked sideroblastic anemia with spinocerebellar ataxia