title: X-chromosome STR sequence variation, repeat structure, and nomenclature in humans and chimpanzees.
abstract: Qualitative information on the sequence composition of the allele and locus structure of the X-STRs DXS8378, DXS9898, DXS6789, GATA31E08, and GATA172D05 was generated in this study. Sequence data were obtained from chimpanzees (Pan troglodytes) and diverse human population groups including Africans, Caucasians, Asians, African-Americans, and Hispanics. Results revealed DXS8378 as the most stable locus. On the other hand, DXS9898 and GATA172D05 showed unstable regions identified through chimpanzee-human sequence comparison. At DXS6789, intra-allelic variation was found in all human populations, i.e., alleles with same fragment sizes showed structural differences only detected by sequencing. At the GATA31E08 locus, a previously unreported variation between humans and chimpanzees was identified in an adjacent region upstream from the repeat. This resulted in the addition of two repeat units and the proposal of a new allele nomenclature at this locus. Also, the sequence analyses did not detect ethnic differences between the studied population samples that would justify the use of these markers to help identify ethnic origin in an anthropological context.
authors.affiliation: IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Rua Dr. Roberto Frias, s/n, 4200-465, Porto, Portugal. igomes@ipatimup.pt
authors.forename: Iva
authors.initials: I
authors.lastname: Gomes
authors.forename: Mechthild
authors.initials: M
authors.lastname: Prinz
authors.forename: Rui
authors.initials: R
authors.lastname: Pereira
authors.forename: Erik
authors.initials: E
authors.lastname: Bieschke
authors.forename: Wolfgang R
authors.initials: WR
authors.lastname: Mayr
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
mesh_terms: D000483:Alleles; D000818:Animals; D014644:Genetic Variation; D006801:Humans; D008297:Male; D002679:Pan troglodytes / Q000235:genetics*; D016133:Polymerase Chain Reaction; D044469:Racial Groups / Q000235:genetics; D017422:Sequence Analysis, DNA; D020080:Tandem Repeat Sequences; D014960:X Chromosome