Analysis of newly identified low copy AluYj subfamily.
Human specific AluY elements were investigated by comparative analysis between human chromosome 21 and chimpanzee chromosome 22. Human specific AluY element was identified on human chromosome 21q22 (accession no. AL163282), and then that was a new member of AluYj subfamily. From the bioinformatic analysis, AluYj subfamily was investigated in human whole genome using AluYj4 consensus sequence (accession no. AL163282). Thirteen members of the AluYj4 elements (4 diagnostic mutations) and eight members of the AluYj3 elements (3 diagnostic mutations) were identified with distinct diagnostic mutation from AluY consensus sequence. The results of the molecular clock calculation of non-CpG region substitution indicated that, AluYj4 elements (2.1 million years old) may be proliferated more recent time than AluYj3 elements (14.1 million years old). For the verification of recent insertion time, four of AluYj4 elements (ch2-AC017101, ch10-AC044786, ch12-AC007656 and ch21-AL163282) from human chromosomes 2, 10, 12, 21 were analyzed by PCR amplification using various human and primate DNA samples. Though, no polymorphism was detected in human population, we identified the new AluYj4 subfamily as the human specific elements.
Park
Eun-Sil
ES
Division of Biological Sciences, College of Natural Sciences, Pusan National University, Buscan, Korea.
Huh
Jae-Won
JW
Kim
Tae-Hong
TH
Kwak
Kyoung-Don
KD
Kim
Wook
W
Kim
Heui-Soo
HS
D020087:Alu Elements / Q000235:genetics*; D000818:Animals; D001029:Aotus trivirgatus; D001483:Base Sequence; D002144:Callithrix; D030561:Databases, Nucleic Acid; D019143:Evolution, Molecular; D006071:Gorilla gorilla; D006801:Humans; D008251:Macaca; D008252:Macaca fascicularis; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics*; D002679:Pan troglodytes / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011148:Pongo pygmaeus; D017422:Sequence Analysis, DNA