Biology subjects

Shriver, M. D.

Publications and source records attributed to Shriver, M. D..

3 recordsLinked to original sources

bioRxiv2018

Facial masculinity does not appear to be a condition-dependent male ornament in humans and does not reflect MHC heterozygosity

Facial masculinity is thought to be a condition-dependent male ornament, reflecting immunocompetence in humans. To test this hypothesis, we calculated an objective measure of facial masculinity/femininity using three-dimensional images in a large sample (N = 1,233) of people of European ancestry. We show that facial masculinity is positively correlated with adult height in both males and females. This suggests that variation in growth contributes, at least in part, to variation in facial masculinity, which is characteristic of condition-dependent traits. However, facial masculinity scales with growth similarly in males and females, suggesting that facial masculinity is not specifically a male ornament. Additionally, we measured immunocompetence via heterozygosity at the major histocompatibility complex (MHC), a well known genetic marker of immunity. We show that while height is positively correlated with MHC heterozygosity, facial masculinity is not. Thus, facial masculinity does not reflect immunocompetence measured by MHC heterozygosity in humans as thought previously. Overall, we find no support for the idea that facial masculinity is a condition-dependent male ornament that has evolved to indicate immunocompetence.

evolutionary biology↗

bioRxiv2017

Copy number variation of ampliconic genes across major human Y haplogroups

Due to its highly repetitive nature, the human male-specific Y chromosome remains understudied. It is important to investigate variation on the Y chromosome to understand its evolution and contribution to phenotypic variation, including infertility. Approximately 20% of the human Y chromosome consists of ampliconic regions which include nine multi-copy gene families. These gene families are expressed exclusively in testes and usually implicated in spermatogenesis. Here, to gain a better understanding of the role of the Y chromosome in human evolution and in determining sexually dimorphic traits, we studied ampliconic gene copy number variation in 100 males representing ten major Y haplogroups world-wide. Copy number was estimated with droplet digital PCR. In contrast to low nucleotide diversity observed on the Y in previous studies, here we show that ampliconic gene copy number diversity is very high. A total of 98 copy-number-based haplotypes were observed among 100 individuals, and haplotypes were sometimes shared by males from very different haplogroups, suggesting homoplasies. The resulting haplotypes did not cluster according to major Y haplogroups. Overall, only three gene families (DATZ, RBMY, TSPY) showed significant differences in copy number among major Y haplogroups, and the haplogroup of an individual could not be predicted based on his ampliconic gene copy numbers. Finally, we found a significant correlation between copy number variation and individuals height (for three gene families), but not between the former and facial masculinity/femininity. Our results suggest rapid evolution of ampliconic gene copy numbers on the human Y, and we discuss its causes.

evolutionary biology↗

bioRxiv2017

Genomics of Mesolithic Scandinavia reveal colonization routes and high-latitude adaptation

Scandinavia was one of the last geographic areas in Europe to become habitable for humans after the last glaciation. However, the origin(s) of the first colonizers and their migration routes remain unclear. We sequenced the genomes, up to 57x coverage, of seven hunter-gatherers excavated across Scandinavia and dated to 9,500-6,000 years before present. Surprisingly, among the Scandinavian Mesolithic individuals, the genetic data display an east-west genetic gradient that opposes the pattern seen in other parts of Mesolithic Europe. This result suggests that Scandinavia was initially colonized following two different routes: one from the south, the other from the northeast. The latter followed the ice-free Norwegian north Atlantic coast, along which novel and advanced pressure-blade stone-tool techniques may have spread. These two groups met and mixed in Scandinavia, creating a genetically diverse population, which shows patterns of genetic adaptation to high latitude environments. These adaptations include high frequencies of low pigmentation variants and a gene-region associated with physical performance, which shows strong continuity into modern-day northern Europeans.

genomics↗