title: Antiquity and diversity of aboriginal Australian Y-chromosomes.
abstract: OBJECTIVE
  Understanding the origins of Aboriginal Australians is crucial in reconstructing the evolution and spread of Homo sapiens as evidence suggests they represent the descendants of the earliest group to leave Africa. This study analyzed a large sample of Y-chromosomes to answer questions relating to the migration routes of their ancestors, the age of Y-haplogroups, date of colonization, as well as the extent of male-specific variation.
  
  
  METHODS
  Knowledge of Y-chromosome variation among Aboriginal Australians is extremely limited. This study examined Y-SNP and Y-STR variation among 657 self-declared Aboriginal males from locations across the continent. 17 Y-STR loci and 47 Y-SNPs spanning the Y-chromosome phylogeny were typed in total.
  
  
  RESULTS
  The proportion of non-indigenous Y-chromosomes of assumed Eurasian origin was high, at 56%. Y lineages of indigenous Sahul origin belonged to haplogroups C-M130*(xM8,M38,M217,M347) (1%), C-M347 (19%), K-M526*(xM147,P308,P79,P261,P256,M231,M175,M45,P202) (12%), S-P308 (12%), and M-M186 (0.9%). Haplogroups C-M347, K-M526*, and S-P308 are Aboriginal Australian-specific. Dating of C-M347, K-M526*, and S-P308 indicates that all are at least 40,000 years old, confirming their long-term presence in Australia. Haplogroup C-M347 comprised at least three sub-haplogroups: C-DYS390.1del, C-M210, and the unresolved paragroup C-M347*(xDYS390.1del,M210).
  
  
  CONCLUSIONS
  There was some geographic structure to the Y-haplogroup variation, but most haplogroups were present throughout Australia. The age of the Australian-specific Y-haplogroups suggests New Guineans and Aboriginal Australians have been isolated for over 30,000 years, supporting findings based on mitochondrial DNA data. Our data support the hypothesis of more than one route (via New Guinea) for males entering Sahul some 50,000 years ago and give no support for colonization events during the Holocene, from either India or elsewhere.
authors.affiliation: Department of Biochemistry and Genetics, La Trobe Institute of Molecular Sciences, La Trobe University, Melbourne, VIC, Australia.
authors.forename: Nano
authors.initials: N
authors.lastname: Nagle
authors.affiliation: Victorian Police Forensic Services Department, Office of the Chief Forensic Scientist, Melbourne, VIC, Australia.|Department of Forensic Molecular Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
authors.forename: Kaye N
authors.initials: KN
authors.lastname: Ballantyne
authors.affiliation: Department of Forensic Molecular Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
authors.forename: Mannis
authors.initials: M
authors.lastname: van Oven
authors.affiliation: The Wellcome Trust Sanger Institute, Welcome Trust Genome Campus, Hinxton, Cambridgeshire, UK.
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.affiliation: The Wellcome Trust Sanger Institute, Welcome Trust Genome Campus, Hinxton, Cambridgeshire, UK.
authors.forename: Yali
authors.initials: Y
authors.lastname: Xue
authors.affiliation: Forensic Science South Australia, 21 Divett Place, Adelaide, SA, 5000, Australia.|School of Biological Sciences, Flinders University, Adelaide, SA, 5001, Australia.
authors.forename: Duncan
authors.initials: D
authors.lastname: Taylor
authors.affiliation: Australian Genome Research Facility, Melbourne, VIC, Australia.
authors.forename: Stephen
authors.initials: S
authors.lastname: Wilcox
authors.affiliation: Department of Biochemistry and Genetics, La Trobe Institute of Molecular Sciences, La Trobe University, Melbourne, VIC, Australia.
authors.forename: Leah
authors.initials: L
authors.lastname: Wilcox
authors.affiliation: Australian Genome Research Facility, Melbourne, VIC, Australia.
authors.forename: Rust
authors.initials: R
authors.lastname: Turkalov
authors.affiliation: Victorian Police Forensic Services Department, Office of the Chief Forensic Scientist, Melbourne, VIC, Australia.
authors.forename: Roland A H
authors.initials: RA
authors.lastname: van Oorschot
authors.affiliation: Griffith University, Brisbane, QLD, Australia.
authors.forename: Peter
authors.initials: P
authors.lastname: McAllister
authors.affiliation: Department of Communities, Child Safety and Disability Services, Queensland Government, Brisbane, QLD, Australia.
authors.forename: Lesley
authors.initials: L
authors.lastname: Williams
authors.affiliation: Department of Forensic Molecular Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
authors.affiliation: Department of Biochemistry and Genetics, La Trobe Institute of Molecular Sciences, La Trobe University, Melbourne, VIC, Australia.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Mitchell
mesh_terms: D000885:Anthropology, Physical; D001315:Australia; D041322:Chromosomes, Human, Y / Q000235:genetics*; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
keywords: Aboriginals; Australia; Sahul; Y-chromosome; haplogroup; haplotype