Andean Aymara Enriched Genetic Variants Are Beneficial to High Altitude Adaptation of Andean Quechuas Living at 5000 m

Amaru, Ricardo; Cayo, Emerson; Luna, Julieta; Quispe, Teddy; Prchal, Josef T.; Song, Jihyun

doi:10.1182/blood-2022-170866

Blood

2022

DOI: 10.1182/blood-2022-170866

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Andean Aymara Enriched Genetic Variants Are Beneficial to High Altitude Adaptation of Andean Quechuas Living at 5000 m

Ricardo Amaru

Emerson Cayo²,

Julieta Luna

et al.

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2024

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Genomic structural variation contributes to evolved changes in gene expression in high-altitude Tibetan sheep

Liang,

Duan,

et al. 2024

Proc. Natl. Acad. Sci. U.S.A.

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Tibetan sheep were introduced to the Qinghai Tibet plateau roughly 3,000 B.P., making this species a good model for investigating genetic mechanisms of high-altitude adaptation over a relatively short timescale. Here, we characterize genomic structural variants (SVs) that distinguish Tibetan sheep from closely related, low-altitude Hu sheep, and we examine associated changes in tissue-specific gene expression. We document differentiation between the two sheep breeds in frequencies of SVs associated with genes involved in cardiac function and circulation. In Tibetan sheep, we identified high-frequency SVs in a total of 462 genes, including EPAS1 , PAPSS2 , and PTPRD . Single-cell RNA-Seq data and luciferase reporter assays revealed that the SVs had cis -acting effects on the expression levels of these three genes in specific tissues and cell types. In Tibetan sheep, we identified a high-frequency chromosomal inversion that exhibited modified chromatin architectures relative to the noninverted allele that predominates in Hu sheep. The inversion harbors several genes with altered expression patterns related to heart protection, brown adipocyte proliferation, angiogenesis, and DNA repair. These findings indicate that SVs represent an important source of genetic variation in gene expression and may have contributed to high-altitude adaptation in Tibetan sheep.

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Genomic structural variation contributes to evolved changes in gene expression in high-altitude Tibetan sheep

Liang,

Duan,

et al. 2024

Proc. Natl. Acad. Sci. U.S.A.

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show abstract

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Andean Aymara Enriched Genetic Variants Are Beneficial to High Altitude Adaptation of Andean Quechuas Living at 5000 m

Cited by 1 publication

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Genomic structural variation contributes to evolved changes in gene expression in high-altitude Tibetan sheep

Genomic structural variation contributes to evolved changes in gene expression in high-altitude Tibetan sheep

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