An average of about 1700 CFTR (cystic fibrosis transmembrane conductance regulator) alleles from normal individuals from different European populations were extensively screened for DNA sequence variation. A total of 80 variants were observed: 61 coding SNSs (results already published), 13 noncoding SNSs, three STRs, two short deletions, and one nucleotide insertion. Eight DNA variants were classified as non-CF causing due to their high frequency of occurrence. Through this survey the CFTR has become the most exhaustively studied gene for its coding sequence variability and, though to a lesser extent, for its noncoding sequence variability as well. Interestingly, most variation was associated with the M470 allele, while the V470 allele showed an 'extended haplotype homozygosity' (EHH). These findings make us suggest a role for selection acting either on the M470V itself or through an hitchhiking mechanism involving a second site. The possible ancient origin of the V allele in an 'out of Africa' time frame is discussed.

Pompei, F., Ciminelli, B.m., Bombieri, C., Ciccacci, C., Koudova, M., Giorgi, S., et al. (2006). Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations, 14(1), 85-93 [10.1038/sj.ejhg.5201498].

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations

CIMINELLI, BIANCA MARIA;MODIANO, GUIDO;
2006-01-01

Abstract

An average of about 1700 CFTR (cystic fibrosis transmembrane conductance regulator) alleles from normal individuals from different European populations were extensively screened for DNA sequence variation. A total of 80 variants were observed: 61 coding SNSs (results already published), 13 noncoding SNSs, three STRs, two short deletions, and one nucleotide insertion. Eight DNA variants were classified as non-CF causing due to their high frequency of occurrence. Through this survey the CFTR has become the most exhaustively studied gene for its coding sequence variability and, though to a lesser extent, for its noncoding sequence variability as well. Interestingly, most variation was associated with the M470 allele, while the V470 allele showed an 'extended haplotype homozygosity' (EHH). These findings make us suggest a role for selection acting either on the M470V itself or through an hitchhiking mechanism involving a second site. The possible ancient origin of the V allele in an 'out of Africa' time frame is discussed.
2006
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/18 - GENETICA
English
Con Impact Factor ISI
CFTR; random variability; allele-restricted haplotype variability
Pompei, F., Ciminelli, B.m., Bombieri, C., Ciccacci, C., Koudova, M., Giorgi, S., et al. (2006). Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations, 14(1), 85-93 [10.1038/sj.ejhg.5201498].
Pompei, F; Ciminelli, Bm; Bombieri, C; Ciccacci, C; Koudova, M; Giorgi, S; Belpinati, F; Begnini, A; Cerny, M; Des_georges, M; Claustres, M; Ferec, C; Macek_jr, M; Modiano, G; Pignatti, P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/37013
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