Search for signals of positive selection of circadian rhythm genes <i>PER1</i>, <i>PER2</i>, <i>PER3</i> in different human populations
The diversity of geographically distributed human populations shows considerable variation in external and internal traits of individuals. Such differences are largely attributed to genetic adaptation to various environmental influences, which include changes in climatic conditions, variations in sl...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders
2024-10-01
|
| Series: | Вавиловский журнал генетики и селекции |
| Subjects: | |
| Online Access: | https://vavilov.elpub.ru/jour/article/view/4293 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832575050894540800 |
|---|---|
| author | A. I. Mishina S. Y. Bakoev A. Y. Oorzhak A. A. Keskinov Sh. Sh. Kabieva A. V. Korobeinikova V. S. Yudin M. M. Bobrova D. A. Shestakov V. V. Makarov L. V. Getmantseva |
| author_facet | A. I. Mishina S. Y. Bakoev A. Y. Oorzhak A. A. Keskinov Sh. Sh. Kabieva A. V. Korobeinikova V. S. Yudin M. M. Bobrova D. A. Shestakov V. V. Makarov L. V. Getmantseva |
| author_sort | A. I. Mishina |
| collection | DOAJ |
| description | The diversity of geographically distributed human populations shows considerable variation in external and internal traits of individuals. Such differences are largely attributed to genetic adaptation to various environmental influences, which include changes in climatic conditions, variations in sleep and wakefulness, dietary variations, and others. Whole-genome data from individuals of different populations make it possible to determine the specific genetic sites responsible for adaptations and to further understand the genetic structure underlying human adaptive characteristics. In this article, we searched for signals of single nucleotide polymorphisms (SNPs) under selection pressure in people of different populations. To identify selection signals in different population groups, the PER1, PER2 and PER3 genes that are involved in the coordination of thermogenic functions and regulation of circadian rhythms, which is directly reflected in the adaptive abilities of the organism, were investigated. Data were analyzed using publicly available data from the 1000 Genomes Project for 23 populations. The Extended Haplotype Homozygosity Score statistical method was chosen to search for traces of selection. The comparative analysis performed identified points subject to selection pressure. The SNPs were annotated through the GWAS catalog and manually by analyzing Internet resources. This study suggests that living conditions, climate, and other external factors directly influence the genetic structure of populations and vary across races and geographic locations. In addition, many of the selection variants in the PER1, PER2, PER3 genes appear to regulate biological processes that are associated with major modern diseases, including obesity, cancer, metabolic syndrome, bipolar personality disorder, depression, rheumatoid arthritis, diabetes mellitus, lupus erythematosus, stroke and Alzheimer’s disease, making them extremely interesting targets for further research aimed at identifying the genetic causes of human disease. |
| format | Article |
| id | doaj-art-e24b85d734674901a06402916ee21b1c |
| institution | Kabale University |
| issn | 2500-3259 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders |
| record_format | Article |
| series | Вавиловский журнал генетики и селекции |
| spelling | doaj-art-e24b85d734674901a06402916ee21b1c2025-02-01T09:58:13ZengSiberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and BreedersВавиловский журнал генетики и селекции2500-32592024-10-0128664064910.18699/vjgb-24-711499Search for signals of positive selection of circadian rhythm genes <i>PER1</i>, <i>PER2</i>, <i>PER3</i> in different human populationsA. I. Mishina0S. Y. Bakoev1A. Y. Oorzhak2A. A. Keskinov3Sh. Sh. Kabieva4A. V. Korobeinikova5V. S. Yudin6M. M. Bobrova7D. A. Shestakov8V. V. Makarov9L. V. Getmantseva10Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyCentre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyCentre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyCentre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyCentre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyCentre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyCentre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyCentre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyCentre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyCentre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyCentre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyThe diversity of geographically distributed human populations shows considerable variation in external and internal traits of individuals. Such differences are largely attributed to genetic adaptation to various environmental influences, which include changes in climatic conditions, variations in sleep and wakefulness, dietary variations, and others. Whole-genome data from individuals of different populations make it possible to determine the specific genetic sites responsible for adaptations and to further understand the genetic structure underlying human adaptive characteristics. In this article, we searched for signals of single nucleotide polymorphisms (SNPs) under selection pressure in people of different populations. To identify selection signals in different population groups, the PER1, PER2 and PER3 genes that are involved in the coordination of thermogenic functions and regulation of circadian rhythms, which is directly reflected in the adaptive abilities of the organism, were investigated. Data were analyzed using publicly available data from the 1000 Genomes Project for 23 populations. The Extended Haplotype Homozygosity Score statistical method was chosen to search for traces of selection. The comparative analysis performed identified points subject to selection pressure. The SNPs were annotated through the GWAS catalog and manually by analyzing Internet resources. This study suggests that living conditions, climate, and other external factors directly influence the genetic structure of populations and vary across races and geographic locations. In addition, many of the selection variants in the PER1, PER2, PER3 genes appear to regulate biological processes that are associated with major modern diseases, including obesity, cancer, metabolic syndrome, bipolar personality disorder, depression, rheumatoid arthritis, diabetes mellitus, lupus erythematosus, stroke and Alzheimer’s disease, making them extremely interesting targets for further research aimed at identifying the genetic causes of human disease.https://vavilov.elpub.ru/jour/article/view/4293populationssnpadaptationper1per2per3 |
| spellingShingle | A. I. Mishina S. Y. Bakoev A. Y. Oorzhak A. A. Keskinov Sh. Sh. Kabieva A. V. Korobeinikova V. S. Yudin M. M. Bobrova D. A. Shestakov V. V. Makarov L. V. Getmantseva Search for signals of positive selection of circadian rhythm genes <i>PER1</i>, <i>PER2</i>, <i>PER3</i> in different human populations Вавиловский журнал генетики и селекции populations snp adaptation per1 per2 per3 |
| title | Search for signals of positive selection of circadian rhythm genes <i>PER1</i>, <i>PER2</i>, <i>PER3</i> in different human populations |
| title_full | Search for signals of positive selection of circadian rhythm genes <i>PER1</i>, <i>PER2</i>, <i>PER3</i> in different human populations |
| title_fullStr | Search for signals of positive selection of circadian rhythm genes <i>PER1</i>, <i>PER2</i>, <i>PER3</i> in different human populations |
| title_full_unstemmed | Search for signals of positive selection of circadian rhythm genes <i>PER1</i>, <i>PER2</i>, <i>PER3</i> in different human populations |
| title_short | Search for signals of positive selection of circadian rhythm genes <i>PER1</i>, <i>PER2</i>, <i>PER3</i> in different human populations |
| title_sort | search for signals of positive selection of circadian rhythm genes i per1 i i per2 i i per3 i in different human populations |
| topic | populations snp adaptation per1 per2 per3 |
| url | https://vavilov.elpub.ru/jour/article/view/4293 |
| work_keys_str_mv | AT aimishina searchforsignalsofpositiveselectionofcircadianrhythmgenesiper1iiper2iiper3iindifferenthumanpopulations AT sybakoev searchforsignalsofpositiveselectionofcircadianrhythmgenesiper1iiper2iiper3iindifferenthumanpopulations AT ayoorzhak searchforsignalsofpositiveselectionofcircadianrhythmgenesiper1iiper2iiper3iindifferenthumanpopulations AT aakeskinov searchforsignalsofpositiveselectionofcircadianrhythmgenesiper1iiper2iiper3iindifferenthumanpopulations AT shshkabieva searchforsignalsofpositiveselectionofcircadianrhythmgenesiper1iiper2iiper3iindifferenthumanpopulations AT avkorobeinikova searchforsignalsofpositiveselectionofcircadianrhythmgenesiper1iiper2iiper3iindifferenthumanpopulations AT vsyudin searchforsignalsofpositiveselectionofcircadianrhythmgenesiper1iiper2iiper3iindifferenthumanpopulations AT mmbobrova searchforsignalsofpositiveselectionofcircadianrhythmgenesiper1iiper2iiper3iindifferenthumanpopulations AT dashestakov searchforsignalsofpositiveselectionofcircadianrhythmgenesiper1iiper2iiper3iindifferenthumanpopulations AT vvmakarov searchforsignalsofpositiveselectionofcircadianrhythmgenesiper1iiper2iiper3iindifferenthumanpopulations AT lvgetmantseva searchforsignalsofpositiveselectionofcircadianrhythmgenesiper1iiper2iiper3iindifferenthumanpopulations |