Targeted investigation of the Neandertal genome by array-based sequence capture.
It is now possible to perform whole-genome shotgun sequencing as well as capture of specific genomic regions for extinct organisms. However, targeted resequencing of large parts of nuclear genomes has yet to be demonstrated for ancient DNA. Here we show that hybridization capture on microarrays can successfully recover more than a megabase of target regions from Neandertal DNA even in the presence of approximately 99.8% microbial DNA. Using this approach, we have sequenced approximately 14,000 protein-coding positions inferred to have changed on the human lineage since the last common ancestor shared with chimpanzees. By generating the sequence of one Neandertal and 50 present-day humans at these positions, we have identified 88 amino acid substitutions that have become fixed in humans since our divergence from the Neandertals.
Burbano
Hernán A
HA
Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.
Hodges
Emily
E
Green
Richard E
RE
Briggs
Adrian W
AW
Krause
Johannes
J
Meyer
Matthias
M
Good
Jeffrey M
JM
Maricic
Tomislav
T
Johnson
Philip L F
PL
Xuan
Zhenyu
Z
Rooks
Michelle
M
Bhattacharjee
Arindam
A
Brizuela
Leonardo
L
Albert
Frank W
FW
de la Rasilla
Marco
M
Fortea
Javier
J
Rosas
Antonio
A
Lachmann
Michael
M
Hannon
Gregory J
GJ
Pääbo
Svante
S
D019943:Amino Acid Substitution; D000818:Animals; D005580:Fossils; D005796:Genes; D016678:Genome; D015894:Genome, Human; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D002679:Pan troglodytes / Q000235:genetics; D011506:Proteins / Q000737:chemistry / Q000235:genetics; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA / Q000379:methods*
D011506:Proteins
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