Pseudogenes: Patterns of Mutation

Rosa Martínez‐Arias, Georg‐August‐University, Göttingen, Germany
Francesc Calafell, Universitat Pompeu Fabra, Barcelona, Spain
Jaume Bertranpetit, Universitat Pompeu Fabra, Barcelona, Spain

Published online: July 2006

DOI: 10.1038/npg.els.0005120

Pseudogenes lack biological function and are therefore free from selective pressure. This makes them extremely useful tools for the study of mutation processes and especially to estimate the pattern of spontaneous mutation in the genome. The nonrandomness of the mutational processes and the existence of mutational hot spots have also been deduced from studies on pseudogenes.

Keywords: pseudogene; mutation pattern; spontaneous mutation

 References
    book Cooper DN (1999) Human Gene Evolution. Oxford, UK: BIOS Scientific Publishers Limited.
    Cooper DN and Krawczak M (1990) The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Human Genetics 85: 55–74.
    Gilad Y, Segré D, Skorecki K, et al. (2000) Dichotomy of single-nucleotide polymorphism haplotypes in olfactory receptor genes and pseudogenes. Nature Genetics 26: 221–224.
    book Graur D and Li WH (2000) Fundamentals of Molecular Evolution, 2nd edn. Sunderland, MA: Sinauer Associates.
    Grimsley C, Mather KA and Ober C (1998) HLA-H: a pseudogene with increased variation due to balancing selection at neighboring loci. Molecular Biology and Evolution 15: 1581–1588.
    Martínez-Arias R, Calafell F, Mateu E, et al. (2001a) Sequence variability of a human pseudogene. Genome Research 11: 1071–1085.
    Martínez-Arias R, Mateu E, Bertranpetit J and Calafell F (2001b) Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutations on its homologous gene. Human Genetics 109: 7–10.
    Nachman MW and Crowell SL (2000) Estimate of the mutation rate per nucleotide in humans. Genetics 156: 297–304.
    Ophir R and Graur D (1997) Patterns and rates of indel evolution in processed pseudogenes from humans and murids. Gene 205: 191–202.
    Schollen E, Pardon E, Heykants L, et al. (1998) Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene. Human Molecular Genetics 7(2): 157–164.
 Further Reading
    book Li WH (1997) Molecular Evolution. Sunderland, MA: Sinauer Associates.
 Web Links
    ePath Glucosidase, beta; acid (includes glucosylceramidase) (GBA); Locus ID: 2629. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2629
    ePath Phosphomannomutase 2 (PMM2); LocusID: 5373. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5373
    ePath Glucosidase, beta; acid (includes glucosylceramidase) (GBA); MIM number: 606463. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?606463
    ePath Phosphomannomutase 2 (PMM2); MIM number: 601785. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601785

Related Sub-Topics:

Evolutionary Genomics | Molecular Evolution | Evolutionary Processes | Variation by Mutation and Recombination
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Article Title: Pseudogenes: Patterns of Mutation
 
How to Cite close
Martínez‐Arias, Rosa, Calafell, Francesc, and Bertranpetit, Jaume(Jul 2006) Pseudogenes: Patterns of Mutation. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005120]