Assignment of the PSST Subunit Gene of Human Mitochondrial Complex I to Chromosome 19p13

Hyslop, Serena J.; Duncan, Alessandra M.V.; Pitkänen, Sari; Robinson, Brian H.

doi:10.1006/geno.1996.0572

Cited by 21 publications

(12 citation statements)

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“…The HP fraction contains the seven mitochondrial (mt) DNA-encoded subunits and about 26 nuclear-encoded subunits. In man the cDNA or gene structure of complex I has currently been determined for 15 nuclear-encoded subunits Chow et al 1991;Spencer et al 1992;Hyslop et al 1996;Zhuchenko et al 1996;Kim et al 1997;Pata et al 1997;Procaccio et al 1997;Ton et al 1997;Heuvel van den et al 1998). These human complex I subunits, and, if known, their chromosomal localization are summarized in Table 1.…”

Section: Introductionmentioning

confidence: 97%

Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I

Smeitink¹,

Loeffen²,

Smeets³

et al. 1998

Human Genetics

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Bovine NADH:ubiquinone oxidoreductase (complex 1) of the mitochondrial respiratory chain consists of about 36 nuclear-encoded subunits. We review the current knowledge of the 15 human complex I subunits cloned so far, and report the 598-bp cDNA sequence, the chromosomal localization and the tissue expression of an additional subunit, the B17 subunit. The cDNA open reading frame of B17 comprises 387 bp and encodes a protein of 128 amino acids (calculated Mr 15.5 kDa). There is 82.7% and 78.1% homology, respectively, at the cDNA and amino acid level with the bovine counterpart. The gene of the B17 subunit has been mapped to chromosome 2. Multiple-tissue dot-blots showed ubiquitous expression of the mRNA with relatively higher expression in tissues known for their high energy demand. Of these, kidney showed the highest expression. Mutational analysis of the subunit revealed no mutations or polymorphisms in 20 patients with isolated enzymatic complex I deficiency in cultured skin fibroblasts.

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Section: Introductionmentioning

confidence: 97%

Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I

Smeitink¹,

Loeffen²,

Smeets³

et al. 1998

Human Genetics

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“…At present, the exact number of the human nuclear-encoded subunits of this complex is not known. So far, some of the nuclear-encoded human subunits have been cloned (Chow et al 1991;Spencer et al 1992;Ali et al 1993;Gu et al 1996;Hyslop et al 1996;Zhuchenko et al 1996;de Coo et al 1997;Kim et al 1997;Pata et al 1997;Procaccio et al 1997;Loeffen et al 1998b, c;Schuelke et al 1998;Smeitink et al 1998;). …”

Section: Introductionmentioning

confidence: 97%

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients

Triepels¹,

Heuvel²,

Loeffen³

et al. 1998

Human Genetics

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We report the cloning of the cDNA sequence of the nuclear-encoded NDUFA8 subunit of NADH: ubiquinone oxidoreductase, the first mitochondrial respiratory chain complex. The NDUFA8 open reading frame (ORF) includes 519 bp and encodes 172 amino acids (Mr=20.1 kDa). The human cDNA sequence shows 86.2% identity with the bovine sequence, whereas the human NDUFA8 amino acid sequence is 87.8% similar to its bovine PGIV protein counterpart. Both human and bovine NDUFA8 contain a conserved cysteine motif. Polymerase chain reaction analysis of rodent/human somatic cell hybrids maps the human NDUFA8 gene to chromosome 9. A multiple tissue blot has revealed the highest NDUFA8 mRNA expression in human heart, skeletal muscle, and fetal heart. Mutation analysis of the NDUFA8 fibroblast cDNA in 20 patients with an isolated enzymatic complex I deficiency in cultured skin fibroblasts has revealed two polymorphisms, one within the ORF and the other in the 3' untranslated region of the NDUFA8 cDNA sequence. The allelic frequency of both polymorphisms was similar in controls and complex-I-deficient patients.

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“…It consists of at least 41 different polypeptide subunits (Walker et al, 1992a), seven of which are encoded by the mitochondrial genome and 34 by the nuclear genome. To date only 14 human nuclear complex I genes have been mapped and/or cloned (Duncan et al, 1992;Spencer et al, 1992;Ali et al, 1993;Baens et al, 1993;de Coo et al, 1995de Coo et al, , 1997Hattori et al, 1995;Hyslop et al, 1996;Gu et al, 1996;Zhuchenko et al, 1996;Russel et al, 1997;Procaccio et al, 1997;Dunbar et al, 1997). Dysfunction of the ETC is believed to contribute to many diseases including encephalomyopathies, diabetes, blindness, deafness, and neurodegenerative disorders (Larsson and Clayton, 1995;Parker and Parks, 1995).…”

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confidence: 99%

lntron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain

Emahazion¹,

Beskow²,

Gyllensten³

et al. 1998

Cytogenet Genome Res

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At least 34 complex I subunits of the electron transport chain are encoded by the nuclear genome, but only 14 of these have been mapped in the human. To rapidly map additional subunits, we have performed a combination of database mining and direct “wet” experimentation to identify intron and/or 5′ upstream genomic DNA regions for 16 complex I genes. Wet experimentation was applied to 5 genes, and involved direct PCR amplification of introns by inter-exon PCR or splinkerette based PCR walking. Database mining was applied to 11 genes, and entailed the identification of incompletely spliced mRNAs and genomic CpG island clone sequences. This data was in files that carried no documentary description of the non-exon regions. Non-exon sequences were thus derived for 15 complex I genes and used to design functional gene specific PCR assays. Radiation hybrid mapping of these PCRs located 15 complex I genes to chromosomes l, 4, 5 (2 genes), 7 (2 genes), 8, 9 (2 genes), 11, 14, 16 (2 genes), 18, and 19.

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Assignment of the PSST Subunit Gene of Human Mitochondrial Complex I to Chromosome 19p13

Cited by 21 publications

References 1 publication

Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I

Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients

lntron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain

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