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Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal

PRJNA420511 Original Paper / DOI2018-09-0653 samples (study)

Abstract

Adaptive evolution in humans has rarely been characterized for its whole set of components, i.e. selective pressure, adaptive phenotype, beneficial alleles and realized fitness differential. We combined approaches for detecting polygenic adaptations and for mapping the genetic bases of physiological and fertility phenotypes in approximately 1000 indigenous ethnically Tibetan women from Nepal, adapted to high altitude. The results of genome-wide association analyses and tests for polygenic adaptations showed evidence of positive selection for alleles associated with more pregnancies and live births and evidence of negative selection for those associated with higher offspring mortality. Lower hemoglobin level did not show clear evidence for polygenic adaptation, despite its strong association with an EPAS1 haplotype carrying selective sweep signals.

Samples & Data on TheYtree

53samples on site
6Y haplogroup resolved

Paternal (Y-DNA) Haplogroups

HaplogroupSamples
O-C122957 2
O-C110628 2
O-C10028 1
H-Z5868 1

Maternal (mtDNA) Haplogroups

Sample Highlights More samples →

SampleY-DNAmtDNACulture / Period
CB1030 O-C110628 A15c1
CB1003 O-C122957 M9a1a1c1b1a
CB1009 O-C110628 M9a1a1c1b1a
CB3026.1 O-C122957 C4a2b2a
CB3064.1 H-Z5868 M70
CB3048.1 O-C10028 M9a1a1c1b1a