Literature DB >> 6819642

Mapping of the genes of some components of the electron transport chain (complex I) on the X chromosome of mammals.

C E Day, I E Scheffler.   

Abstract

This paper describes genetic mapping studies with several respiration-deficient mutants of Chinese hamster fibroblasts which have a defect in complex I of the electron transport chain (NADH-coenzyme Q reductase). The mutations associated with two different complementation groups map on the X chromosome. In two cases (G14 and G20) karyotypic and isozyme analyses in hybrids have shown that a gene(s) on the mouse X chromosome complements the mutation(s) in the hamster cell mutant(s). A cosegregation analysis in hybrid cells has shown the corresponding genes to be linked to the HPRT genes (hamster-mouse hybrids of G14, and hamster-hamster hybrids for G14 and G20). By the same method the defective gene in a third mutant (G4) was also shown to be X-linked. A mutation representing a third complementation group (G11) was shown to be on an autosomal gene. These results provide an explanation for our observation that cells with recessive mutations in complementation groups I and II can be selected at relatively high frequencies.

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Year:  1982        PMID: 6819642     DOI: 10.1007/bf01543012

Source DB:  PubMed          Journal:  Somatic Cell Genet        ISSN: 0098-0366


  6 in total

1.  Selective killing of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.

Authors:  R Petrova-Benedict; J R Buncic; D C Wallace; B H Robinson
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria.

Authors:  H C Au; B B Seo; A Matsuno-Yagi; T Yagi; I E Scheffler
Journal:  Proc Natl Acad Sci U S A       Date:  1999-04-13       Impact factor: 11.205

Review 3.  Molecular genetics of the mammalian NADH-ubiquinone oxidoreductase.

Authors:  I E Scheffler; N Yadava
Journal:  J Bioenerg Biomembr       Date:  2001-06       Impact factor: 2.945

4.  Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.

Authors:  I Wittig; P Augstein; G K Brown; T Fujii; A Rötig; P Rustin; A Munnich; P Seibel; D Thorburn; B Wissinger; K Tamboom; A Metspalu; E Lamantea; M Zeviani; M S Wehnert
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

5.  High throughput gene complementation screening permits identification of a mammalian mitochondrial protein synthesis (ρ(-)) mutant.

Authors:  Prasanth Potluri; Vincent Procaccio; Immo E Scheffler; Douglas C Wallace
Journal:  Biochim Biophys Acta       Date:  2016-03-04

Review 6.  Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency.

Authors:  Immo E Scheffler
Journal:  J Inherit Metab Dis       Date:  2014-09-16       Impact factor: 4.982

  6 in total

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