title: [Mutation mechanisms and their consequences].
abstract: The identification of mutations leading to human genetic diseases has grown into an intensive research field during the last few years. Through novel DNA analysis progress, it is now possible to determine the mutational spectrum for a given genetic disease and international databases are now available online. Genetic diagnosis of hereditary diseases has become an essential tool in genetic counselling and prenatal diagnosis. The knowledge of the deleterious mutation type and the molecular associated mechanism is fundamental in order to devise the optimal molecular diagnosis strategy. This review aims to present the various mutation categories involved in genetic diseases (single base-pair substitutions, small deletions or insertions, dynamic mutations, gross DNA lesions...) and to summarize our current knowledge about the main molecular mechanisms responsible for these mutations. Their deleterious consequences on gene expression, including transcription and transcript maturation, and protein loss or gain of function are also discussed in this review.
authors.affiliation: Laboratoire de Génétique Moléculaire EA 3618, Université René Descartes Paris 5, Faculté des Sciences Pharmaceutiques et Biologiques, 4, avenue de l'Observatoire, 75006 Paris, France.
authors.forename: Nadine
authors.initials: N
authors.lastname: Hanna
authors.forename: Béatrice
authors.initials: B
authors.lastname: Parfait
authors.forename: Dominique
authors.initials: D
authors.lastname: Vidaud
authors.forename: Michel
authors.initials: M
authors.lastname: Vidaud
mesh_terms: D007446:Chromosome Inversion; D004251:DNA Transposable Elements; D044127:Epigenesis, Genetic; D005786:Gene Expression Regulation / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D009030:Mosaicism; D016296:Mutagenesis; D016254:Mutagenesis, Insertional; D009154:Mutation; D010455:Peptides / Q000235:genetics; D017354:Point Mutation; D011506:Proteins / Q000737:chemistry / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion; D013329:Structure-Activity Relationship; D009626:Terminology as Topic; D014178:Translocation, Genetic
chemical_list: D004251:DNA Transposable Elements; D010455:Peptides; D011506:Proteins; D012333:RNA, Messenger; C019529:polyalanine