Mutations in the mitochondrial split gene $COXI$ are preferentially located in exons: a mapping study of 170 mutants - Université Paris Cité Accéder directement au contenu
Article Dans Une Revue Molecular and General Genetics MGG Année : 1995

Mutations in the mitochondrial split gene $COXI$ are preferentially located in exons: a mapping study of 170 mutants

Résumé

We have analysed the precise location of a large number (170) of mutations affecting the structural gene for subunit I of the cytochrome c oxidase complex. This gene, $COXI$, is 12.9 kb long and the major part of the sequence (i.e. 11.3 kb) is composed of introns. Several conclusions can be drawn from this study: (1) A significant proportion (84/170) of the mutations cannot be assigned to a single position within the gene by deletion mapping, in spite of clearly being located in it. These mutations are probably large deletions or multiple mutations. (2) Four mutants carry distant double mutations , which have been individually localized. (3) Eighty-two mutants have lesions that are restricted to very short regions of the gene and we therefore conclude that they are most probably due to single hits; amongst these single mutations, 41 are unambiguously located in ex-ons and 28 in introns. This result implies that, at least in this particular split gene, the probability of selection of a mutant phenotype in an exon is, on the average, 13.3 times greater than in an intron, in spite of the existence, within most of these introns, of open reading frames specifying intronic proteins. The evolutionary significance and biological implications of these results are discussed.
Fichier principal
Vignette du fichier
Pnett.pdf (1.15 Mo) Télécharger le fichier
Origine : Fichiers éditeurs autorisés sur une archive ouverte
Loading...

Dates et versions

cea-02474786 , version 1 (11-02-2020)

Identifiants

Citer

Pierre Netter, Sylviane Robineau, Claire Lemaire. Mutations in the mitochondrial split gene $COXI$ are preferentially located in exons: a mapping study of 170 mutants. Molecular and General Genetics MGG, 1995, 246 (4), pp.445-454. ⟨10.1007/bf00290448⟩. ⟨cea-02474786⟩
37 Consultations
191 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More