Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event

Human Mutation

Volumn 31, Issue 5, 2010, Pages 552-560

  Ganster, Christina ^a   Wernstedt, Annekatrin ^b   Kehrer Sawatzki, Hildegard ^c   Messiaen, Ludwine ^d   Schmidt, Konrad ^b   Rahner, Nils ^e   Heinimann, Karl ^f   Fonatsch, Christa ^a   Zschocke, Johannes ^b   Wimmer, Katharina ^b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c UNIVERSITY OF ULM   (Germany)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^e UNIVERSITY OF BONN   (Germany)

^f UNIVERSITY OF BASEL   (Switzerland)

Author keywords

Crossover; DNA mismatch repair; Gene conversion hybrid allele; HNPCC; Lynch syndrome; Nonhomologous recombination; Paralogous sequence exchange; PMS2; PMS2CL; Pseudogene

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2;

ALLELE; ARTICLE; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; CONTROLLED STUDY; CROSSING OVER; ETHNIC DIFFERENCE; GENE FREQUENCY; GENE FUNCTION; GENE SEQUENCE; GENETIC RECOMBINATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYBRID GENE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; SENSITIVITY AND SPECIFICITY;

ADENOSINE TRIPHOSPHATASES; ALLELES; BASE SEQUENCE; CHIMERA; DNA MUTATIONAL ANALYSIS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; EXONS; HAPLOTYPES; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; PSEUDOGENES; RECOMBINATION, GENETIC;

EID: 77951825294     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21223     Document Type: Article

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