title: Intra- and intercontinental molecular variability of an Alu insertion in the 3' untranslated region of the LDLR gene.
abstract: 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.
authors.affiliation: Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, 91501-970 Porto Alegre, RS, Brazil.
authors.forename: A H
authors.initials: AH
authors.lastname: Heller
authors.forename: F M
authors.initials: FM
authors.lastname: Salzano
authors.forename: R
authors.initials: R
authors.lastname: Barrantes
authors.forename: M
authors.initials: M
authors.lastname: Krylov
authors.forename: L
authors.initials: L
authors.lastname: Benevolenskaya
authors.forename: F C
authors.initials: FC
authors.lastname: Arnett
authors.forename: B
authors.initials: B
authors.lastname: Munkhbat
authors.forename: N
authors.initials: N
authors.lastname: Munkhtuvshin
authors.forename: K
authors.initials: K
authors.lastname: Tsuji
authors.forename: M H
authors.initials: MH
authors.lastname: Hutz
authors.forename: F R
authors.initials: FR
authors.lastname: Carnese
authors.forename: A S
authors.initials: AS
authors.lastname: Goicoechea
authors.forename: L B
authors.initials: LB
authors.lastname: Freitas
authors.forename: S L
authors.initials: SL
authors.lastname: Bonatto
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D020087:Alu Elements / Q000235:genetics*; D044467:American Indian or Alaska Native / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D005843:Geography; D006239:Haplotypes; D006801:Humans; D004930:Inuit / Q000235:genetics; D008986:Mongolia / Q000208:ethnology; D012150:Polymorphism, Restriction Fragment Length; D012800:Siberia / Q000208:ethnology
chemical_list: D020413:3' Untranslated Regions