Genome-wide identification of human- and primate-specific core promoter short tandem repeats.
Recent reports of a link between human- and primate-specific genetic factors and human/primate-specific characteristics and diseases necessitate genome-wide identification of those factors. We have previously reported core promoter short tandem repeats (STRs) of extreme length (≥6-repeats) that have expanded exceptionally in primates vs. non-primates, and may have a function in adaptive evolution. In the study reported here, we extended our study to the human STRs of ≥3-repeats in the category of penta and hexaucleotide STRs, across the entire human protein coding gene core promoters, and analyzed their status in several superorders and orders of vertebrates, using the Ensembl database. The ConSite software was used to identify the transcription factor (TF) sets binding to those STRs. STR specificity was observed at different levels of human and non-human primate (NHP) evolution. 73% of the pentanucleotide STRs and 68% of the hexanucleotide STRs were found to be specific to human and NHPs. AP-2alpha, Sp1, and MZF were the predominantly selected TFs (90%) binding to the human-specific STRs. Furthermore, the number of TF sets binding to a given STR was found to be a selection factor for that STR. Our findings indicate that selected STRs, the cognate binding TFs, and the number of TF set binding to those STRs function as switch codes at different levels of human and NHP evolution and speciation.
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
A
A
Bushehri
Cell and Molecular Biology Research Center, Department of Anatomy and Biology, Faculty of Medicine, Shahid Beheshti University, Velenjak, Tehran, Iran.
M R Mashhoudi
MR
Barez
Clinical Psychology Department, Faculty of Science and Research, Qazvin Azad University, Qazvin, Iran.
S K
SK
Mansouri
Department of Biostatistics, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
A
A
Biglarian
Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
M
M
Ohadi
D000818:Animals; D019143:Evolution, Molecular; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D011323:Primates / Q000145:classification / Q000235:genetics*; D011401:Promoter Regions, Genetic; D024363:Transcription Initiation Site
AP-2alpha; Core promoter; Genome-wide; Human-specific; MZF; Primate-specific; Short tandem repeat; Sp1