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A role for overdominant selection in phenylketonuria? Evidence from molecular data
Author(s) -
Krawczak Michael,
Zschocke Johannes
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.10205
Subject(s) - phenylalanine hydroxylase , biology , hum , extant taxon , selection (genetic algorithm) , genetics , mutation , evolutionary biology , phenylalanine , gene , amino acid , artificial intelligence , computer science , art , performance art , art history
To date, the reason is unknown for the high prevalence of phenylalanine hydroxylase ( PAH ) mutations causing phenylketonuria (PKU) in extant European populations. However, molecular genetic data generated over the last decade suggest that the concomitant excess of (unaffected) PKU carriers is at least in part the result of overdominant selection (“heterozygous advantage”). Such selection would have acted upon several different mutations in different historical populations. The exact nature of the underlying selective mechanism is unknown; its elucidation requires further investigation. Hum Mutat 21:394–397, 2003. © 2003 Wiley‐Liss, Inc.