Literature DB >> 7488192

Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex I in mitochondrial respiratory chain.

N Hattori1, H Suzuki, Y Wang, S Minoshima, N Shimizu, H Yoshino, R Kurashima, M Tanaka, T Ozawa, Y Mizuno.   

Abstract

The structural organization of the entire human nuclear encoded gene for the 24-kDa iron-sulfur subunit of mitochondrial NADH-ubiquinone oxidoreductase (Complex I) and its chromosomal localization were determined. The gene contains 8 exons spanning 31.5 kb. The 5' flanking region sequenced lacks typical CAAT and TATA boxes but contains three putative GC boxes and there is one GC box at the beginning of the first intron. The sequences matching completely with the NRF-1 binding site and Mt elements were not identified in the flanking region. This gene was assigned to human chromosome 18 at region p11.3, by fluorescent in situ hybridization.

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Year:  1995        PMID: 7488192     DOI: 10.1006/bbrc.1995.2688

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN: 0006-291X            Impact factor:   3.575


  6 in total

1.  Coordinated decrease of the expression of the mitochondrial and nuclear complex I genes in a mitochondrial mutant of Drosophila.

Authors:  Géraldine Farge; Sylvie Touraille; Philippe Lachaume; Roger Debise; Vincent Procaccio; Serge Alziari
Journal:  J Bioenerg Biomembr       Date:  2004-04       Impact factor: 2.945

2.  The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.

Authors:  J Loeffen; R Smeets; J Smeitink; W Ruitenbeek; A Janssen; E Mariman; R Sengers; F Trijbels; L van den Heuvel
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

3.  Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

Authors:  L van den Heuvel; W Ruitenbeek; R Smeets; Z Gelman-Kohan; O Elpeleg; J Loeffen; F Trijbels; E Mariman; D de Bruijn; J Smeitink
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

4.  Human NADH:ubiquinone oxidoreductase.

Authors:  J Smeitink; R Sengers; F Trijbels; L van den Heuvel
Journal:  J Bioenerg Biomembr       Date:  2001-06       Impact factor: 2.945

5.  The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.

Authors:  R Triepels; J Smeitink; J Loeffen; R Smeets; C Buskens; F Trijbels; L van den Heuvel
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982

6.  The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.

Authors:  J Loeffen; R Smeets; J Smeitink; R Triepels; R Sengers; F Trijbels; L van den Heuvel
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

  6 in total

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