Literature DB >> 7607668

Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene.

R de Coo1, P Buddiger, H Smeets, A Geurts van Kessel, J Morgan-Hughes, D O Weghuis, J Overhauser, B van Oost.   

Abstract

Two distinct loci for the 24-kDa subunit of the mitochondrial NADH:ubiquinone oxidoreductase (complex I of the respiratory chain) were detected in the human genome: a transcribed gene from chromosome 18 and an inactive locus on chromosome 19. Cosmid clones containing the functional gene (NDUFV2) and the pseudogene (NDUFV2P1) were isolated. The NDUFV2 gene spans approximately 20 kb and contains 8 exons. Refined mapping of both NDUFV2 genes by FISH resulted in an assignment of the NDUFV2 gene to 18p11.2-p11.31 and of the NDUFV2P1 gene to 19q13.3-qter. The nucleotide sequence of the NDUFV2P1 pseudogene differs from the cDNA sequence by the lack of the methionine initiator codon, an additional 165 bp of the first intron sequence, and a 1-nucleotide deletion.

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Year:  1995        PMID: 7607668     DOI: 10.1016/0888-7543(95)80163-g

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  10 in total

1.  Cloning and sequence analysis of the gene encoding 19-kD subunit of Complex I from Dunaliella salina.

Authors:  Yi Liu; Dai Rong Qiao; Hong Bo Zheng; Xu Lan Dai; Lin Han Bai; Jing Zeng; Yi Cao
Journal:  Mol Biol Rep       Date:  2007-05-26       Impact factor: 2.316

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.  Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies.

Authors:  J M Collombet; H Faure-Vigny; G Mandon; R Dumoulin; S Boissier; A Bernard; B Mousson; G Stepien
Journal:  Mol Cell Biochem       Date:  1997-03       Impact factor: 3.396

4.  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

5.  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

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

7.  Osteopontin mediates the formation of corpora amylacea-like structures from degenerating neurons in the CA1 region of the rat hippocampus after ischemia.

Authors:  Tae-Ryong Riew; Xuyan Jin; Ji-Won Hwang; Soojin Kim; Hong Lim Kim; Mun-Yong Lee
Journal:  Cell Tissue Res       Date:  2022-06-11       Impact factor: 4.051

8.  Mitochondrial targeting of human NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) and its association with early-onset hypertrophic cardiomyopathy and encephalopathy.

Authors:  Hsin-Yu Liu; Pin-Chao Liao; Kai-Tun Chuang; Mou-Chieh Kao
Journal:  J Biomed Sci       Date:  2011-05-06       Impact factor: 8.410

9.  Spatiotemporal expression of osteopontin in the striatum of rats subjected to the mitochondrial toxin 3-nitropropionic acid correlates with microcalcification.

Authors:  Tae-Ryong Riew; Hong Lim Kim; Xuyan Jin; Jeong-Heon Choi; Yoo-Jin Shin; Ji Soo Kim; Mun-Yong Lee
Journal:  Sci Rep       Date:  2017-03-27       Impact factor: 4.379

10.  Identification of modules of hepatic encephalopathy based on protein-protein network and gene expression data.

Authors:  Hao Wu; Miao Liu; Jiajun Zhuang
Journal:  Exp Ther Med       Date:  2018-03-06       Impact factor: 2.447

  10 in total

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