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Titolo:
Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression
Autore:
Obata, K; Fukuda, T; Morishita, R; Abe, S; Asakawa, S; Yamaguchi, S; Yoshino, M; Ihara, K; Murayama, K; Shigemoto, K; Shimizu, N; Kondo, I;
Indirizzi:
Ehime Univ, Sch Med, Dept Hyg, Shigenobu, Ehime 7910295, Japan Ehime UnivShigenobu Ehime Japan 7910295 Shigenobu, Ehime 7910295, Japan Ehime Univ, Fac Agr, Dept Biol Resources, Matsuyama, Ehime 7908566, Japan Ehime Univ Matsuyama Ehime Japan 7908566 Matsuyama, Ehime 7908566, Japan Keio Univ, Sch Med, Dept Mol Biol, Shinjuku Ku, Tokyo 1608582, Japan Keio Univ Tokyo Japan 1608582 ol Biol, Shinjuku Ku, Tokyo 1608582, Japan Shimane Med Univ, Dept Pediat, Izumo, Shimane 6938501, Japan Shimane Med Univ Izumo Shimane Japan 6938501 zumo, Shimane 6938501, Japan Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 8300011, Japan Kurume Univ Kurume Fukuoka Japan 8300011 , Kurume, Fukuoka 8300011, Japan Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka 8128582, Japan Kyushu Univ Fukuoka Japan 8128582 i, Dept Pediat, Fukuoka 8128582, Japan Natl Rehabil Ctr Disabled Children, Dept Pediat, Itabashi Ku, Tokyo 1730037, Japan Natl Rehabil Ctr Disabled Children Tokyo Japan 1730037 yo 1730037, Japan
Titolo Testata:
GENOMICS
fascicolo: 2, volume: 72, anno: 2001,
pagine: 145 - 152
SICI:
0888-7543(20010301)72:2<145:HBSO3C>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
MOLECULAR-CLONING; BOVINE KIDNEY; DEFICIENCY; NEWBORN; ENZYMES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Kondo, I Ehime Univ, Sch Med, Dept Hyg, Shigenobu, Ehime 7910295, Japan Ehime Univ Shigenobu Ehime Japan 7910295 u, Ehime 7910295, Japan
Citazione:
K. Obata et al., "Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression", GENOMICS, 72(2), 2001, pp. 145-152

Abstract

3-Methylcrotonyl-CoA carboxylase (MCCase; EC 6.4.1.4) is a mitochondrial biotin enzyme and plays an essential role in the catabolism of leucine and isovalerate in animals, bacterial species, and plants. MCCase consists of two subunits, those that are biotin-containing and non-biotin-containing. Thegenes responsible for these subunits have been isolated in soybean, Arabidopsis thaliana, and tomatoes, but not in mammals. In humans, MCCase deficiency has been thought to be a rare metabolic disease, but the number of patients with MCCase deficiency appears to be increasing with a wide range of clinical presentations, some that result in a lethal condition and others that are asymptomatic. In this report, we have isolated and carried out chromosomal mapping of the gene for the biotin-containing subunit (A subunit) ofthe human MCCase gene, MCCA. The cDNA predicts an open reading frame coding for a 725-amino-acid protein with mitochondrial signal peptide, biotin carboxylase, and biotin-carrier domains. The gene is composed of at least 19 exons and covers more than 70 kb of sequence on band q27 of chromosome 3. MCCA was abundantly expressed in mitochondria-rich organs, such as the heart, skeletal muscles, kidney, and liver. In exon 13, we observed a His/Pro polymorphism at codon 464 (an A to C transition at nucleotide position 1391 in the cDNA sequence). Then, we determined the DNA sequences of the 5' untranslated region and entire coding regions in two patients with MCCase deficiency, but no sequence substitution was detected, suggesting that the gene mutations might be in the non-biotin-containing subunit (B subunit) gene, MCCB, in these patients. (C) 2001 Academic Press.

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Documento generato il 10/07/20 alle ore 09:45:56