Intra-and Intercontinental Molecular Variability of an Alu Insertion in the 3' Untranslated Region of the LDLR Gene

• Published in: Human biology Vol. 76; no. 4; pp. 591 - 604
• Main Authors: HELLER, A.H., SALZANO, E.M., BARRANTES, R., KRYLOV, M., BENEVOLENSKAYA, L., ARNETT, F.C., MUNKHBAT, B., MUNKHTUVSHIN, N., TSUJI, K., HUTZ, M.H., CARNESE, F.R., GOICOECHEA, A.S., FREITAS, L.B., BONATTO, S.L.
• Format: Journal Article
• Language: English
• Published: United States Wayne State University Press 01-08-2004
• Subjects: 3' Untranslated Regions - genetics; Alu Elements - genetics; American Native Continental Ancestry Group - ethnology; American Native Continental Ancestry Group - genetics; Americas; Asian Continental Ancestry Group - genetics; Biodiversity; Biological diversity; Chromosomes; DNA; Ethnic groups; Evolutionary genetics; Gene Frequency; Genes; Genetic aspects; Genetic diversity; Genetic Variation; Genetics, Population; Geography; Haplotypes; Human biology; Human genetics; Humans; Indigenous populations; Inuits - genetics; Low density lipoprotein receptors; Molecular biology; Mongolia; Mongolia - ethnology; Native Americans; Native peoples; Polymerase chain reaction; Polymorphism, Restriction Fragment Length; Population genetics; Population size; Sample size; Siberia; Siberia - ethnology; Mongolia; Siberia; United States > US
• DOI: 10.1353/hub.2004.0056
• EISSN: 1534-6617
• ISSN: 0018-7143; 1534-6617

One-hundred three individuals from two Mongolian, two Siberian, and ten native American populations were studied in relation to a 340-bp sequence from an Alu insertion located in the 3' untranslated region of the LDLR gene. Seven haplotypes have been determined, and haplotype B1 was the most common, accounting for about half the sequences found. In general, diversity values are quite high, about 2.5 times higher than those found in other autosomal Alu sequences. Almost all (93%) of the variability occurs at the intrapopulation level, but the greatest among-group differentiation (6-8%) was found when we grouped in a single population all Native Americans plus Siberian Eskimos and Chukchi and compared them with Mongolians. This result is compatible with earlier mtDNA and Y-chromosome suggestions of a single origin for the first colonizers of the American continent. With this nuclear locus it was not possible to broadly distinguish between Central and South American natives. No evidence of selection or marked demographic changes was obtained with these data.