The genetic landscape, gene flow and adaptation in Ladakh highlanders of trans-Himalayas
Abstract The Ladakh in the trans-Himalayas has witnessed complex cultural movements and demographic changes since the Neolithic period, which continue despite the harsh, inhospitable and cold climate. Although geographically isolated from mainland South Asia, Ladakh has historic trade routes and is well connected and accessible to travelers from Tibet and Central Asia. Despite its rich cultural heritage, a detailed description of the genetic landscape of the Ladakh region is completely lacking, particularly with regard to genome-wide markers and larger sample sizes. Therefore, in our current study, we genotyped 80 individuals from Kargil and Leh districts of the Union Territory of Ladakh, India. Here, we performed a comprehensive genetic analysis based on allele frequency and haplotype sharing. Our analysis revealed the presence of two distinct genetic lineages in the region with quite different genetic composition. The population of the Leh region is more similar to East Asian and Southeast Asian populations with population drift. In contrast, the population of the Kargil region is more similar to the Indo-European population. The former group shares a genetic history with Tibetans and Sherpas, while the latter group from Kargil associates with Kashmiri Muslims, Gujjars and Nepalese Brahmins. For both groups, there was a founder event at about 11thto 22thgenerations ago and duration coincided with the Mughal invasion. The genome-wide scan for a signal of positive selection revealed genetic signatures of high-altitude adaptation (EPAS1andELMO2) in the Leh population, while in the Kargil population the key gene signatures were associated with immunity and female fertility..
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Preprint| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
bioRxiv.org - (2024) vom: 28. Feb. Zur Gesamtaufnahme - year:2024 |
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| Sprache: |
Englisch |
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| Beteiligte Personen: |
Kumar, Lomous [VerfasserIn] |
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| Links: |
Volltext [kostenfrei] |
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| doi: |
10.1101/2024.02.05.579041 |
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| PPN (Katalog-ID): |
XBI042450810 |
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| 520 | |a Abstract The Ladakh in the trans-Himalayas has witnessed complex cultural movements and demographic changes since the Neolithic period, which continue despite the harsh, inhospitable and cold climate. Although geographically isolated from mainland South Asia, Ladakh has historic trade routes and is well connected and accessible to travelers from Tibet and Central Asia. Despite its rich cultural heritage, a detailed description of the genetic landscape of the Ladakh region is completely lacking, particularly with regard to genome-wide markers and larger sample sizes. Therefore, in our current study, we genotyped 80 individuals from Kargil and Leh districts of the Union Territory of Ladakh, India. Here, we performed a comprehensive genetic analysis based on allele frequency and haplotype sharing. Our analysis revealed the presence of two distinct genetic lineages in the region with quite different genetic composition. The population of the Leh region is more similar to East Asian and Southeast Asian populations with population drift. In contrast, the population of the Kargil region is more similar to the Indo-European population. The former group shares a genetic history with Tibetans and Sherpas, while the latter group from Kargil associates with Kashmiri Muslims, Gujjars and Nepalese Brahmins. For both groups, there was a founder event at about 11thto 22thgenerations ago and duration coincided with the Mughal invasion. The genome-wide scan for a signal of positive selection revealed genetic signatures of high-altitude adaptation (EPAS1andELMO2) in the Leh population, while in the Kargil population the key gene signatures were associated with immunity and female fertility. | ||
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