title: Albinism (OCA2) in Amerindians.
abstract: Homozygosity for a mutation in the P locus mapped to the human chromosome 15q11.2-12 results in tyrosinase-positive albinism (OCA2). This type of albinism has a worldwide distribution, with a prevalence of about 1 in 36,000 among European-Americans in the United States. It has a moderate to relatively high prevalence values (1 in 28 to 1 in 6,500) in various Amerindian populations in the southwestern United States, southern Mexico, eastern Panama, and southern Brazil. The wide distribution of the gene for OCA2 in Amerindian populations, and its relatively high frequency in several of these populations, are enigmatic because of the detrimental nature of OCA2 in the presence of certain environmental conditions. The relative Darwinian fitness of individuals with this inborn error of metabolism would have been reduced in early nomadic hunting-gathering populations because of their poor visual acuity and sensitivity to the sun. Nevertheless, specific situations allowed OCA2 to increase in frequency in certain Amerindian populations at various different times in history. The present objectives are to review the literature on albinism (OCA2) in Amerindians, and propose hypotheses for the variable frequencies of the OCA2 gene in Amerindian populations, which include chance processes (founder effect, bottleneck effect, and genetic drift) in small populations, natural selection, cultural selection, and the interaction of situations that led to the increase of the frequency of the albino gene in some generations. Special emphasis is placed on those Amerindian populations with a relatively high frequency of the OCA2 gene that have been best-studied, namely, the Cuna population of eastern Panama and the Hopi population in the southwestern US. Hypothetical scripts are presented for the present relatively high frequencies of the OCA2 gene in these populations. A hypothetical script is also presented, showing how a mutant gene could have reached a relatively high frequency in a small endogamous early Mayan population and then been spread by migrating groups to other geographical regions, following the rapid increase in size of that population. Comprehensive molecular studies of OCA2 genes in Amerindian populations could yield information on the possible origin of the albino gene present in many of these populations, in addition to the gene flow that occurred among some of them in past generations. The results of these studies could lead to more informed hypotheses concerning the wide distribution of OCA2 in Amerindian populations.
authors.affiliation: School of Life Sciences, Arizona State University, Tempe, Arizona 85287-4501, USA. atcmw@asu.edu
authors.forename: Charles M
authors.initials: CM
authors.lastname: Woolf
mesh_terms: D016115:Albinism, Oculocutaneous / Q000208:ethnology* / Q000235:genetics*; D044467:American Indian or Alaska Native / Q000235:genetics*; D003469:Culture; D005298:Fertility / Q000502:physiology*; D005828:Genetics, Population; D006801:Humans; D008957:Models, Genetic; D012641:Selection, Genetic