title: The 9-bp deletion between the mitochondrial lysine tRNA and COII genes in tribal populations of India.
abstract: A 9-base-pair (bp) deletion located between the lysine tRNA (MTTK) and COII (MTCOX*2) genes in the human mitochondrial genome is a valuable marker for tracing population relationships. Previous research has shown that the 9-bp deletion is associated with two major clusters of control region sequences; one occurs in sub-Saharan Africa, while the other is associated with Asian populations and populations of Asian origin. We surveyed 898 individuals from 16 tribal populations in India and found 6 individuals with the 9-bp deletion. Sequences of the first hypervariable segment (HV1) of the mtDNA control region from these 9-bp deletion-bearing mtDNAs were compared to those previously reported from Asian and African populations. Phylogenetic analysis indicates three distinct clusters of tribal Indian 9-bp deletion mtDNA types. One cluster, found in northeast India, includes southeast Asian and Indonesian mtDNA types. The remaining two clusters appear to have unique origins in southern India. These data provide further evidence of past migrations from Asia into the northeast corner of the Indian subcontinent.
authors.affiliation: Department of Anthropology, Pennsylvania State University, University Park, USA.
authors.forename: V J
authors.initials: VJ
authors.lastname: Clark
authors.forename: S
authors.initials: S
authors.lastname: Sivendren
authors.forename: N
authors.initials: N
authors.lastname: Saha
authors.forename: G R
authors.initials: GR
authors.lastname: Bentley
authors.forename: R
authors.initials: R
authors.lastname: Aunger
authors.forename: S M
authors.initials: SM
authors.lastname: Sirajuddin
authors.forename: M
authors.initials: M
authors.lastname: Stoneking
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002899:Chromosomes, Human, Pair 9; D016000:Cluster Analysis; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005819:Genetic Markers; D005828:Genetics, Population; D006801:Humans; D007194:India; D008297:Male; D018598:Minisatellite Repeats; D010802:Phylogeny; D017354:Point Mutation; D011159:Population Surveillance; D012424:Rural Population; D012494:Sampling Studies; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers