Matches in SemOpenAlex for { <https://semopenalex.org/work/W1991446163> ?p ?o ?g. }
- W1991446163 endingPage "940" @default.
- W1991446163 startingPage "932" @default.
- W1991446163 abstract "Despite the intense debate around the repeat instability reported on the large group of neurological disorders caused by trinucleotide repeat expansions, little is known about the mutation process underlying alleles in the normal range that, ultimately, expand to pathological size. In this study, we assessed the mutation mechanisms by which wild-type Machado-Joseph disease (MJD) alleles have been generated throughout human evolution. Haplotypes including the CAG repeat, six intragenic SNPs and four flanking microsatellites were analysed in 431 normal chromosomes of European, Asian and African origin. A bimodal CAG repeat length frequency distribution was found in the four most frequent wild-type lineages (H1-GCGGCA; H2-GTGGCA; H3-TTAGAC and H4-TTACAC). Based on flanking microsatellite haplotypes, the variance calculated by analysis of molecular variance between modal (CAG)n alleles was little or null in lineages H1, H2 and H4, as were the pairwise differences. Moreover, genetic distances among all the alleles from each lineage did not reflect the allele sizes differences, as expected if a stepwise mutation model was the main process of evolution. On the contrary, when exposed in maximum parsimonious phylogenetic trees, a large number of mutation steps separated same-size alleles, whereas several microsatellite haplotypes were shared by modal CAGs. In conclusion, our results suggest that the main mutation mechanism occurring in the evolution of the polymorphic CAG region at MJD/SCA3 locus is a multistep one, either by gene conversion or DNA slippage; repeats with 14, 21, 23 and 27 CAGs are the main alleles involved in this process." @default.
- W1991446163 created "2016-06-24" @default.
- W1991446163 creator A5004413817 @default.
- W1991446163 creator A5023163976 @default.
- W1991446163 creator A5025990066 @default.
- W1991446163 creator A5060654220 @default.
- W1991446163 creator A5073725489 @default.
- W1991446163 date "2006-05-17" @default.
- W1991446163 modified "2023-10-09" @default.
- W1991446163 title "A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus" @default.
- W1991446163 cites W1547946332 @default.
- W1991446163 cites W1597824427 @default.
- W1991446163 cites W1978124503 @default.
- W1991446163 cites W1979729701 @default.
- W1991446163 cites W1980083127 @default.
- W1991446163 cites W1980721237 @default.
- W1991446163 cites W2006671194 @default.
- W1991446163 cites W2046200770 @default.
- W1991446163 cites W2057787531 @default.
- W1991446163 cites W2060565120 @default.
- W1991446163 cites W2062181873 @default.
- W1991446163 cites W2064563306 @default.
- W1991446163 cites W2070184097 @default.
- W1991446163 cites W2073012734 @default.
- W1991446163 cites W2082810041 @default.
- W1991446163 cites W2089066295 @default.
- W1991446163 cites W2104743461 @default.
- W1991446163 cites W2112814753 @default.
- W1991446163 cites W2115326399 @default.
- W1991446163 cites W2116603113 @default.
- W1991446163 cites W2118415943 @default.
- W1991446163 cites W2121361038 @default.
- W1991446163 cites W2124347540 @default.
- W1991446163 cites W2127135035 @default.
- W1991446163 cites W2129507204 @default.
- W1991446163 cites W2134204970 @default.
- W1991446163 cites W2154532733 @default.
- W1991446163 cites W2159203886 @default.
- W1991446163 cites W2160620085 @default.
- W1991446163 cites W2318667727 @default.
- W1991446163 cites W2340405095 @default.
- W1991446163 doi "https://doi.org/10.1038/sj.ejhg.5201643" @default.
- W1991446163 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16724006" @default.
- W1991446163 hasPublicationYear "2006" @default.
- W1991446163 type Work @default.
- W1991446163 sameAs 1991446163 @default.
- W1991446163 citedByCount "29" @default.
- W1991446163 countsByYear W19914461632012 @default.
- W1991446163 countsByYear W19914461632014 @default.
- W1991446163 countsByYear W19914461632016 @default.
- W1991446163 countsByYear W19914461632018 @default.
- W1991446163 countsByYear W19914461632019 @default.
- W1991446163 countsByYear W19914461632020 @default.
- W1991446163 countsByYear W19914461632021 @default.
- W1991446163 countsByYear W19914461632023 @default.
- W1991446163 crossrefType "journal-article" @default.
- W1991446163 hasAuthorship W1991446163A5004413817 @default.
- W1991446163 hasAuthorship W1991446163A5023163976 @default.
- W1991446163 hasAuthorship W1991446163A5025990066 @default.
- W1991446163 hasAuthorship W1991446163A5060654220 @default.
- W1991446163 hasAuthorship W1991446163A5073725489 @default.
- W1991446163 hasBestOaLocation W19914461631 @default.
- W1991446163 hasConcept C104317684 @default.
- W1991446163 hasConcept C166252455 @default.
- W1991446163 hasConcept C180754005 @default.
- W1991446163 hasConcept C197754878 @default.
- W1991446163 hasConcept C54355233 @default.
- W1991446163 hasConcept C57708383 @default.
- W1991446163 hasConcept C61320498 @default.
- W1991446163 hasConcept C84597430 @default.
- W1991446163 hasConcept C86803240 @default.
- W1991446163 hasConcept C98638677 @default.
- W1991446163 hasConceptScore W1991446163C104317684 @default.
- W1991446163 hasConceptScore W1991446163C166252455 @default.
- W1991446163 hasConceptScore W1991446163C180754005 @default.
- W1991446163 hasConceptScore W1991446163C197754878 @default.
- W1991446163 hasConceptScore W1991446163C54355233 @default.
- W1991446163 hasConceptScore W1991446163C57708383 @default.
- W1991446163 hasConceptScore W1991446163C61320498 @default.
- W1991446163 hasConceptScore W1991446163C84597430 @default.
- W1991446163 hasConceptScore W1991446163C86803240 @default.
- W1991446163 hasConceptScore W1991446163C98638677 @default.
- W1991446163 hasIssue "8" @default.
- W1991446163 hasLocation W19914461631 @default.
- W1991446163 hasLocation W19914461632 @default.
- W1991446163 hasOpenAccess W1991446163 @default.
- W1991446163 hasPrimaryLocation W19914461631 @default.
- W1991446163 hasRelatedWork W1977759172 @default.
- W1991446163 hasRelatedWork W1982733818 @default.
- W1991446163 hasRelatedWork W2034758407 @default.
- W1991446163 hasRelatedWork W2045035622 @default.
- W1991446163 hasRelatedWork W2084728934 @default.
- W1991446163 hasRelatedWork W2097920075 @default.
- W1991446163 hasRelatedWork W2119436849 @default.
- W1991446163 hasRelatedWork W2373611073 @default.
- W1991446163 hasRelatedWork W2912584396 @default.
- W1991446163 hasRelatedWork W31405811 @default.
- W1991446163 hasVolume "14" @default.