title: Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis.
abstract: The membrane-associated transporter protein (MATP) plays an important role in melanin synthesis. The L374F mutation in the SLC45A2 gene encoding MATP has been suggested to be associated with skin colour in major human populations. In this study more detailed distribution of the F374 allele was investigated in 1649 unrelated subjects from 13 Eurasian populations and one African population. The highest allele frequency was observed in Germans (0.965); French and Italians showed somewhat lower frequencies; and Turks had an intermediate value (0.615). Indians and Bangladeshis from South Asia were characterized by low frequencies (0.147 and 0.059, respectively). We also found the F374 allele in some East and Southeast Asian populations, and explained this by admixture. Haplotype analysis revealed that the haplotype diversity was much lower in Germans than in Japanese, and suggest that the L374F mutation occurred only once in the ancestry of Caucasians. The large differences in distribution of the F374 allele and its haplotypes suggest that this allele may be an important factor in hypopigmentation in Caucasian populations.
authors.affiliation: Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan. yuasai@grape.med.tottori-u.ac.jp
authors.forename: I
authors.initials: I
authors.lastname: Yuasa
authors.forename: K
authors.initials: K
authors.lastname: Umetsu
authors.forename: S
authors.initials: S
authors.lastname: Harihara
authors.forename: A
authors.initials: A
authors.lastname: Kido
authors.forename: A
authors.initials: A
authors.lastname: Miyoshi
authors.forename: N
authors.initials: N
authors.lastname: Saitou
authors.forename: B
authors.initials: B
authors.lastname: Dashnyam
authors.forename: F
authors.initials: F
authors.lastname: Jin
authors.forename: G
authors.initials: G
authors.lastname: Lucotte
authors.forename: P K
authors.initials: PK
authors.lastname: Chattopadhyay
authors.forename: L
authors.initials: L
authors.lastname: Henke
authors.forename: J
authors.initials: J
authors.lastname: Henke
mesh_terms: D000951:Antigens, Neoplasm / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D018703:Founder Effect; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D026901:Membrane Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D019998:Racemases and Epimerases / Q000235:genetics; D043562:Receptors, G-Protein-Coupled / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: D000951:Antigens, Neoplasm; D026901:Membrane Transport Proteins; C410092:RXFP3 protein, human; D043562:Receptors, G-Protein-Coupled; C510061:SLC45A2 protein, human; D019998:Racemases and Epimerases; C108352:alpha-methylacyl-CoA racemase