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Modern genomics in studying the problems of human adaptation to climate in north Siberia
ΠΠΊΡΡΠ°Π»ΡΠ½ΠΎΡΡΡ: ΠΠΎΡΠ΅Π½Π½ΡΠ΅ ΠΆΠΈΡΠ΅Π»ΠΈ Π‘ΠΈΠ±ΠΈΡΠΈ ΠΆΠΈΠ²ΡΡ Π² ΡΠΊΡΡΡΠ΅ΠΌΠ°Π»ΡΠ½ΠΎ ΡΡΡΠΎΠ²ΡΡ
ΠΏΡΠΈΡΠΎΠ΄Π½ΡΡ
ΡΡΠ»ΠΎΠ²ΠΈΡΡ
Π½Π° ΠΠ΅ΠΌΠ»Π΅, ΠΈΡΠΏΡΡΡΠ²Π°Ρ Π½Π° ΡΠ΅Π±Π΅ Π΄Π»ΠΈΡΠ΅Π»ΡΠ½ΠΎΠ΅ Π²ΠΎΠ·Π΄Π΅ΠΉΡΡΠ²ΠΈΠ΅ Ρ
ΠΎΠ»ΠΎΠ΄Π°, ΡΠΈΠ»ΡΠ½ΡΡ
ΠΊΠΎΠ»Π΅Π±Π°Π½ΠΈΠΉ ΠΏΡΠΎΠ΄ΠΎΠ»ΠΆΠΈΡΠ΅Π»ΡΠ½ΠΎΡΡΠΈ ΡΠ²Π΅ΡΠΎΠ²ΠΎΠ³ΠΎ Π΄Π½Ρ ΠΈ Π΄ΠΎΠ²ΠΎΠ»ΡΠ½ΠΎ ΠΎΠ³ΡΠ°Π½ΠΈΡΠ΅Π½Π½ΠΎΠ³ΠΎ ΡΠ°ΡΠΈΠΎΠ½Π° ΠΏΠΈΡΠ°Π½ΠΈΡ. ΠΡΠ΅Π²ΠΈΠ΄Π½ΠΎ, ΡΡΠΎ ΡΡΠΏΠ΅ΡΠ½ΠΎΠ΅ ΠΎΡΠ²ΠΎΠ΅Π½ΠΈΠ΅ ΡΠ΅Π»ΠΎΠ²Π΅ΠΊΠΎΠΌ ΡΡΠΎΠ»Ρ ΡΠ»ΠΎΠΆΠ½ΡΡ
Π΄Π»Ρ ΠΏΡΠΎΠΆΠΈΠ²Π°Π½ΠΈΡ ΡΠ΅ΡΡΠΈΡΠΎΡΠΈΠΉ ΡΠ²ΡΠ·Π°Π½ΠΎ Π½Π΅ ΡΠΎΠ»ΡΠΊΠΎ Ρ ΠΊΡΠ»ΡΡΡΡΠ½ΠΎΠΉ, Π½ΠΎ ΠΈ Ρ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠΉ Π°Π΄Π°ΠΏΡΠ°ΡΠΈΠ΅ΠΉ. ΠΠ΄Π½Π°ΠΊΠΎ ΠΊΠΎΠ½ΠΊΡΠ΅ΡΠ½ΡΠ΅ ΠΌΠ΅Ρ
Π°Π½ΠΈΠ·ΠΌΡ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΏΡΠΈΡΠΏΠΎΡΠΎΠ±Π»Π΅Π½ΠΈΡ ΠΊ Ρ
ΠΎΠ»ΠΎΠ΄Π½ΠΎΠΌΡ ΠΊΠ»ΠΈΠΌΠ°ΡΡ, Π° ΡΠ°ΠΊΠΆΠ΅ ΠΊ Π΄ΠΈΠ΅ΡΠ΅ Ρ Π²ΡΡΠΎΠΊΠΈΠΌ ΡΠΎΠ΄Π΅ΡΠΆΠ°Π½ΠΈΠ΅ΠΌ ΠΆΠΈΠ²ΠΎΡΠ½ΡΡ
ΠΆΠΈΡΠΎΠ² Π΄ΠΎ ΡΠΈΡ
ΠΏΠΎΡ ΠΎΡΡΠ°ΡΡΡΡ ΠΌΠ°Π»ΠΎ ΠΈΠ·ΡΡΠ΅Π½Π½ΡΠΌΠΈ. Π¦Π΅Π»Ρ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ: ΠΠΎΠΈΡΠΊ ΠΌΠ°ΡΠΊΠ΅ΡΠΎΠ² ΠΏΠΎΠ»ΠΈΠ³Π΅Π½Π½ΠΎΠ³ΠΎ ΠΎΡΠ±ΠΎΡΠ° ΠΊ ΠΊΠ»ΠΈΠΌΠ°ΡΠΈΡΠ΅ΡΠΊΠΎΠΌΡ ΡΡΡΠ΅ΡΡΡ Π² Π²ΡΡΠΎΠΊΠΈΡ
ΡΠ΅Π²Π΅ΡΠ½ΡΡ
ΡΠΈΡΠΎΡΠ°Ρ
ΠΈ ΠΏΠΈΡΠ΅Π²ΠΎΠΌΡ ΡΠ°ΡΠΈΠΎΠ½Ρ, ΠΎΡΠ½ΠΎΠ²Π°Π½Π½ΠΎΠΌΡ Π½Π° Π±ΠΎΠ³Π°ΡΠΎΠΉ ΠΆΠΈΠ²ΠΎΡΠ½ΡΠΌΠΈ ΠΆΠΈΡΠ°ΠΌΠΈ ΠΏΠΈΡΠ΅. ΠΠ°ΡΠ΅ΡΠΈΠ°Π»Ρ ΠΈ ΠΌΠ΅ΡΠΎΠ΄Ρ: ΠΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠ΅ ΡΠΎΡΡΠΎΡΠ»ΠΎ ΠΈΠ· ΡΡΡΡ
ΡΡΠ°ΠΏΠΎΠ². ΠΠ° ΠΏΠ΅ΡΠ²ΠΎΠΌ ΡΡΠ°ΠΏΠ΅ Π² ΠΏΠΎΠΏΡΠ»ΡΡΠΈΡΡ
Π½Π³Π°Π½Π°ΡΠ°Π½ Π’Π°ΠΉΠΌΡΡΠ° (N=21) ΠΈ ΡΠΊΡΡΠΎΠ² Π Π΅ΡΠΏΡΠ±Π»ΠΈΠΊΠΈ Π‘Π°Ρ
Π° (N=21) Π²ΡΠΏΠΎΠ»Π½Π΅Π½Ρ ΠΎΡΠ±ΠΎΡΠΎΡΠ½ΠΎΠ΅ ΠΏΠΎΠ»Π½ΠΎΡΠΊΠ·ΠΎΠΌΠ½ΠΎΠ΅ ΡΠΊΠ°Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ ΠΈ ΠΏΠΎΠ»Π½ΠΎΠ³Π΅Π½ΠΎΠΌΠ½ΡΠΉ Π°Π½Π°Π»ΠΈΠ· ΠΎΠ΄Π½ΠΎΠ½ΡΠΊΠ»Π΅ΠΎΡΠΈΠ΄Π½ΡΡ
Π·Π°ΠΌΠ΅Π½ (SNP). ΠΠ° Π²ΡΠΎΡΠΎΠΌ ΡΡΠ°ΠΏΠ΅ Π² Β«Ρ
Π²ΠΎΡΡΠ°Ρ
Β» ΡΠΌΠΏΠΈΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΡΠ°ΡΠΏΡΠ΅Π΄Π΅Π»Π΅Π½ΠΈΠΉ Π²ΡΡΠ²Π»Π΅Π½Ρ Π³Π΅Π½Ρ-ΠΊΠ°Π½Π΄ΠΈΠ΄Π°ΡΡ, ΡΠ²ΡΠ·Π°Π½Π½ΡΠ΅ Ρ Π±ΠΈΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΈΠΌΠΈ ΠΏΡΠΎΡΠ΅ΡΡΠ°ΠΌΠΈ ΠΈ ΡΠ΅Π½ΠΎΡΠΈΠΏΠ°ΠΌΠΈ, ΠΈΠΌΠ΅ΡΡΠΈΠΌΠΈ ΠΎΡΠ½ΠΎΡΠ΅Π½ΠΈΠ΅ ΠΊ Π°Π΄Π°ΠΏΡΠ°ΡΠΈΠΈ Π² ΡΠΈΡΠΊΡΠΌΠΏΠΎΠ»ΡΡΠ½ΡΡ
Π³ΡΡΠΏΠΏΠ°Ρ
. ΠΠ° ΡΡΠ΅ΡΡΠ΅ΠΌ ΡΡΠ°ΠΏΠ΅ Π»ΡΡΡΠΈΠ΅ ΠΊΠ°Π½Π΄ΠΈΠ΄Π°ΡΡ Π³Π΅Π½ΠΎΡΠΈΠΏΠΈΡΠΎΠ²Π°Π½Ρ Π² Π΄ΠΎΠΏΠΎΠ»Π½ΠΈΡΠ΅Π»ΡΠ½ΡΡ
ΠΏΠΎΠΏΡΠ»ΡΡΠΈΡΡ
Π‘ΠΈΠ±ΠΈΡΠΈ, ΡΡΠΎΠ±Ρ ΠΎΠΏΡΠ΅Π΄Π΅Π»ΠΈΡΡ ΠΏΡΠΎΡΡΡΠ°Π½ΡΡΠ²Π΅Π½Π½ΠΎΠ΅ ΡΠ°ΡΠΏΡΠ΅Π΄Π΅Π»Π΅Π½ΠΈΠ΅ ΡΠ°ΡΡΠΎΡ Π°Π»Π»Π΅Π»Π΅ΠΉ ΠΈ ΠΈΡ
Π°ΡΡΠΎΡΠΈΠ°ΡΠΈΠΈ Ρ ΠΊΠ»ΠΈΠΌΠ°ΡΠΈΡΠ΅ΡΠΊΠΈΠΌΠΈ ΠΏΠ΅ΡΠ΅ΠΌΠ΅Π½Π½ΡΠΌΠΈ. Π Π΅Π·ΡΠ»ΡΡΠ°ΡΡ: ΠΡΠ»ΠΈ Π²ΡΡΠ²Π»Π΅Π½Ρ Π³Π΅Π½Ρ-ΠΊΠ°Π½Π΄ΠΈΠ΄Π°ΡΡ, ΠΈΠ· ΠΊΠΎΡΠΎΡΡΡ
Π½Π°ΠΈΠ±ΠΎΠ»ΡΡΠΈΠΉ ΠΈΠ½ΡΠ΅ΡΠ΅Ρ ΠΏΡΠ΅Π΄ΡΡΠ°Π²ΠΈΠ»ΠΈ Π³Π΅Π½Ρ PLA2G2A, PLIN1, ANGPTL8, Π²ΠΎΠ²Π»Π΅ΡΡΠ½Π½ΡΠ΅ Π² Π»ΠΈΠΏΠΈΠ΄Π½ΡΠΉ ΠΌΠ΅ΡΠ°Π±ΠΎΠ»ΠΈΠ·ΠΌ ΠΈ ΡΠ²ΡΠ·Π°Π½Π½ΡΠ΅ Ρ Π±ΡΡΠΎΠΉ ΠΆΠΈΡΠΎΠ²ΠΎΠΉ ΡΠΊΠ°Π½ΡΡ. Π ΡΡΠΈΡ
Π³Π΅Π½Π°Ρ
ΠΎΠ±Π½Π°ΡΡΠΆΠ΅Π½Ρ Π½Π΅ΡΠΈΠ½ΠΎΠ½ΠΈΠΌΠΈΡΠ½ΡΠ΅ Π·Π°ΠΌΠ΅Π½Ρ, ΡΠ°ΡΠΏΡΠΎΡΡΡΠ°Π½ΡΠ½Π½ΠΎΡΡΡ ΠΊΠΎΡΠΎΡΡΡ
Π² ΡΠ΅Π²Π΅ΡΠ½ΡΡ
ΠΏΠΎΠΏΡΠ»ΡΡΠΈΡΡ
ΡΠΊΠ°Π·ΡΠ²Π°Π΅Ρ Π½Π° Π²Π΅ΡΠΎΡΡΠ½ΠΎΠ΅ Π²ΠΎΠ·Π΄Π΅ΠΉΡΡΠ²ΠΈΠ΅ Π΅ΡΡΠ΅ΡΡΠ²Π΅Π½Π½ΠΎΠ³ΠΎ ΠΎΡΠ±ΠΎΡΠ°. ΠΠ°ΠΊΠ»ΡΡΠ΅Π½ΠΈΠ΅: ΠΠΎΠ»ΡΡΠ΅Π½Π½ΡΠ΅ ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΡ ΠΏΠΎΠ΄ΡΠ²Π΅ΡΠΆΠ΄Π°ΡΡ Π³ΠΈΠΏΠΎΡΠ΅Π·Ρ ΠΎ ΡΠΎΠΌ, ΡΡΠΎ ΠΊΠΎΡΠ΅Π½Π½ΡΠ΅ ΠΏΠΎΠΏΡΠ»ΡΡΠΈΠΈ Π‘ΠΈΠ±ΠΈΡΠΈ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈ Π°Π΄Π°ΠΏΡΠΈΡΠΎΠ²Π°Π»ΠΈΡΡ ΠΊ ΠΆΡΡΡΠΊΠΎΠΉ ΡΡΠ΅Π΄Π΅ ΠΎΠ±ΠΈΡΠ°Π½ΠΈΡ ΠΏΡΡΠ΅ΠΌ ΠΎΡΠ±ΠΎΡΠ° ΠΏΠΎ Π½Π΅ΡΠΊΠΎΠ»ΡΠΊΠΈΠΌ Π³Π΅Π½Π°ΠΌ, ΠΈΠΌΠ΅ΡΡΠΈΠΌ ΠΎΡΠ½ΠΎΡΠ΅Π½ΠΈΠ΅ ΠΊ ΠΌΠ΅ΡΠ°Π±ΠΎΠ»ΠΈΠ·ΠΌΡ ΠΆΠΈΡΠΎΠ². Background: Indigenous people of north Siberia live in some of the harshest natural conditions on Earth, experiencing prolonged exposure to cold, large fluctuations in the length of daylight, and a limited diet. It is obvious that the successful occupation of such extremely difficult territories is connected not only with cultural but also with genetic adaptation. However, specific mechanisms of genetic adaptation to the cold climate and animal fat-rich diet still remain poorly understood. The aim of the study: To explore markers of polygenic selection for fat-rich diet and climate stress in the high northern latitudes. Materials and methods: The study consisted of three stages. At the first stage, we performed selection scans on whole exome and genome-wide single nucleotide polymorphism array data from the populations of Nganasans (N=21) and Yakuts (N=21). At the second stage, in the tails of empirical distributions, candidate genes associated with biological processes and phenotypes related to adaptation in circumpolar groups were revealed. At the third stage, the best candidates were genotyped in additional Siberian populations to determine the spatial distribution of allele frequencies and their associations with climatic variables. Results: We have identified several candidate genes, the most relevant being PLA2G2A, PLIN1, and ANGPTL8 genes involved in lipid metabolism and related to brown adipose tissue. Missense mutations in these genes exhibit spatial patterns consistent with selection for cold climate and/or diet. Conclusion: The results support the hypothesis that indigenous populations in Siberia have genetically adapted to harsh environments by selection on multiple genes related mostly to fat metabolism.Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]