Abstract
In order to understand evolutionary aspects of the highly polymorphicHLA-F microsatellite (heterozygosity>90%), several alleles of primates were characterized. 576 meioses from 35 CEPH families were investigated for regular transmission. Furthermore 364 healthy, non-related individuals belonging to four populations from distant ethnic groups were analysed to determine the applicability of this locus in population studies.
Sequencing revealed alternate (GAGGAA)n blocks spaced by (GAA)n repeats in all primates analysed. The mutation rate of this locus amounts to 1.5%. The mutational patterns follow approximately the one step mutation model. Differential analysis suggests that mutation rates depend on the repeat length. Paternal mutation rates exceed maternal ones. The presence of both allele classes in all human populations investigated indicates that this polymorphism predated raciation. Evidence is provided that the short alleles originated from the longer ones by deletion. Finally the differential analysis of each allele class corroborates the biological history of the studied populations as traced by other genetic markers.
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Santos, E.J.M., Epplen, J.T., Epplen, C. et al. Microsatellite evolution in the 5′ UTR of theHLA-F gene. Hum. Evol. 13, 57–64 (1998). https://doi.org/10.1007/BF02439369
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DOI: https://doi.org/10.1007/BF02439369