DNA sequences of Alu elements indicate a recent replacement of the human autosomal genetic complement.
DNA sequences of neutral nuclear autosomal loci, compared across diverse human populations, provide a previously untapped perspective into the mode and tempo of the emergence of modern humans and a critical comparison with published clonally inherited mitochondrial DNA and Y chromosome measurements of human diversity. We obtained over 55 kilobases of sequence from three autosomal loci encompassing Alu repeats for representatives of diverse human populations as well as orthologous sequences for other hominoid species at one of these loci. Nucleotide diversity was exceedingly low. Most individuals and populations were identical. Only a single nucleotide difference distinguished presumed ancestral alleles from descendants. These results differ from those expected if alleles from divergent archaic populations were maintained through multiregional continuity. The observed virtual lack of sequence polymorphism is the signature of a recent single origin for modern humans, with general replacement of archaic populations.
Knight
A
A
Department of Biochemistry and Molecular Biology, Louisiana State University Medical Center, New Orleans 70112, USA.
Batzer
M A
MA
Stoneking
M
M
Tiwari
H K
HK
Scheer
W D
WD
Herrera
R J
RJ
Deininger
P L
PL
D000483:Alleles; D000818:Animals; D001053:Apolipoproteins / Q000235:genetics; D001483:Base Sequence; D005075:Biological Evolution; D004247:DNA / Q000737:chemistry*; D017931:DNA Primers; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D005914:Globins / Q000235:genetics; D006071:Gorilla gorilla / Q000235:genetics; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D002679:Pan troglodytes / Q000235:genetics; D007703:Peptidyl-Dipeptidase A / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011148:Pongo pygmaeus / Q000235:genetics; D044469:Racial Groups / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D012689:Sequence Homology, Nucleic Acid
D001053:Apolipoproteins; D017931:DNA Primers; D005914:Globins; D004247:DNA; D007703:Peptidyl-Dipeptidase A