The human RIT2 core promoter short tandem repeat predominant allele is species-specific in length: a selective advantage for human evolution?
| Autor: | Mina Ohadi, Monavvar Andarva, Hossein Darvish, Babak Emamalizadeh, Somayeh Kazeminasab, Pegah Namdar-Aligoodarzi, Abofazl Movafagh |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Primates Genotype Fixed allele Locus (genetics) Pilot Projects Biology Iran Evolution Molecular 03 medical and health sciences Gene Frequency Species Specificity Genetics Additive genetic effects Animals Humans Allele Promoter Regions Genetic Molecular Biology Allele frequency Monomeric GTP-Binding Proteins General Medicine Null allele humanities Minor allele frequency 030104 developmental biology Schizophrenia Microsatellite Repeats |
| Zdroj: | Molecular genetics and genomics : MGG. 292(3) |
| ISSN: | 1617-4623 |
| Popis: | Evolutionary analyses of the critical core promoter interval support a selective advantage for expanding the length of certain short tandem repeats (STRs) in humans. We recently reported genome-wide data on human core promoter STRs that are "exceptionally long" (≥6-repeats). Near the top of the list, the neuron-specific gene, RIT2, contains one of the longest GA-STRs at 11-repeats. In the present study, we analyzed the evolutionary implications of this STR across species. We also studied this STR in a sample of 2,143 Iranian human subjects that encompassed a number of neuropsychiatric disorders and controls. We report that this GA repeat is functional and different lengths of the repeat result in significant alteration in gene expression activity. The 11-repeat allele was human specific and the sole allele detected in 110 unrelated Iranian individuals randomly selected and sequenced from our control pool. Remarkably, homozygosity for a 5-repeat allele was detected in a consanguineous, hospitalized case of schizophrenia, which significantly decreased gene expression activity (p |
| Databáze: | OpenAIRE |
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