Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-07

AUTHORS

Rosa Martínez-Arias, Eva Mateu, Jaume Bertranpetit, Francesc Calafell

ABSTRACT

We have compared the substitution pattern of the glucocerebrosidase gene (GBA) and the glucocerebrosidase pseudogene (psGBA), two highly homologous regions under different selective pressures and within the same genomic background. Mutations in GBA may lead to Gaucher disease, an inborn metabolic disorder. Disease-causing mutations and neutral variation in the gene have been compared to neutral variation in the pseudogene. This comparison offers a unique opportunity to better understand the action of purifying selection, since the differences between mutational patterns can be attributed to different selective pressures. A similar frequency of CpG dinucleotides was observed in GBA and in psGBA, and CpG pairs were mutated with the same high frequency in both regions. However, nucleotides not in CpG pairs were more likely to contribute to disease-causing mutation than to accepted polymorphisms. This pattern, which resulted in a lower transition to transversion ratio in the gene, may be due to CpG avoidance on critical regions within exons. More... »

PAGES

7-10

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004390100523

DOI

http://dx.doi.org/10.1007/s004390100523

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1030340434

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11479729


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