A5055165596- Forensic and Genetic Research
- Pleistocene-Era Hominins and Archaeology
- Chromosomal and Genetic Variations
- Forensic Anthropology and Bioarchaeology Studies
- Genetic diversity and population structure
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Evolution and Genetic Dynamics
- Genomic variations and chromosomal abnormalities
- Animal Ecology and Behavior Studies
- Primate Behavior and Ecology
- Genomics and Chromatin Dynamics
- Race, Genetics, and Society
- RNA and protein synthesis mechanisms
Aarhus University
2017-2024
The distribution of fitness effects (DFE) is central to many questions in evolutionary biology. However, little known about the differences DFE between closely related species. We use >9000 coding genes orthologous one-to-one across great apes, gibbons, and macaques assess stability apes. unfolded site frequency spectrum polymorphic mutations (
The X chromosome in non-African humans shows less diversity and Neanderthal introgression than expected from neutral evolution. Analyzing 162 human male chromosomes worldwide, we identified fourteen chromosomal regions where nearly identical haplotypes spanning several hundred kilobases are found at high frequencies non-Africans. Genetic drift alone cannot explain the existence of these haplotypes, which must have been associated with strong positive selection partial selective sweeps....
After the main Out-of-Africa event, humans interbred with Neanderthals leaving 1-2% of Neanderthal DNA scattered in small fragments all non-African genomes today. Here we investigate what can be learned about human demographic processes from size distribution these fragments. We observe differences fragment length across Eurasia 12% longer East Asians than West Eurasians. Comparisons between extant populations ancient samples show that are caused by different rates decay recombination since...
Abstract Ampliconic genes are multicopy often located on sex chromosomes and enriched for testis-expressed genes. Here, Lucotte et al. developed new bioinformatic approaches to investigate the ampliconic gene copy number their coding... multicopy, with majority found While have been associated emergence of hybrid incompatibilities, we know little about distribution turnover in human populations. explore evolution X- Y-linked by investigating variation (CNV) coding between populations using...
Abstract After the main out-of-Africa event, humans interbred with Neanderthals leaving 1-2% of Neanderthal DNA scattered in small fragments all non-African genomes today 1,2 . Here we investigate size distribution these 3 We find consistent differences fragment length distributions across Eurasia 11% longer East Asians than West Eurasians. By comparing extant populations and ancient samples, show that are due to a different rate decay by recombination since admixture. In line this, observe...
A major part of the human Y chromosome consists palindromes with multiple copies genes primarily expressed in testis, many which have been claimed to affect male fertility. Here we examine copy number variation these based on whole genome sequence data from 11,527 Icelandic men. Using a subset 7947 men grouped into 1449 patrilineal genealogies, infer 57 large scale de novo mutations affecting palindrome 1. This corresponds mutation rate 2.34 × 10-3 per meiosis, is 4.1 times larger than our...
Abstract The X chromosome in non-African human populations shows less diversity and Neanderthal introgression than expected under the standard neutral model. We analyzed 162 chromosomes from males worldwide discovered 14 chromosomal regions where haplotypes of several hundred kilobases rapidly rose to high frequencies non-Africans. These observations cannot be explained by genetic drift realistic demographic scenarios are only consistent with partial selective sweeps produced strong...
Abstract Survival and reproduction strategies in mammals are determined by trade-offs between life history traits. In turn, the unique configuration of traits that characterizes mammalian species gives rise to species-specific population dynamics. The dependence dynamics on has been primarily studied as relationship density size-related With recent accumulation genomic data, effective size (number breeding individuals; N e ) over last 100-800 kya become quantifiable for a large proportion...
Abstract Ampliconic genes are good candidates for speciation genes: they testis-expressed, multicopy and localized on sex chromosomes. Moreover, copy number variation in a specific ampliconic gene pair ( Slx Sly ) is involved hybrid incompatibilities between M. musculus domesticus . However, we know little about the distribution of their turnover human populations. Here explore evolution X- Y-linked by investigating (CNV) coding populations using Simons Genome Diversity Project. We develop...
Abstract The X chromosome in non-African populations has less diversity and Neanderthal introgression than expected. We analyzed across the globe discovered seventeen chromosomal regions, where haplotypes of several hundred kilobases have recently reached high frequencies only. selective sweeps must occurred more 45,000 years ago because ancient Ust’-Ishim male also carries its expected proportion these haplotypes. Surprisingly, swept are entirely devoid introgression, which implies that a...
Abstract The distribution of fitness effects (DFE) is central to many questions in evolutionary biology. However, little known about the differences DFEs between closely related species. We use more than 9,000 coding genes orthologous one-to-one across great apes, gibbons, and macaques assess stability DFE apes. unfolded site frequency spectrum polymorphic mutations (n = 8 haploid chromosomes per population) estimate DFE. find that shape deleterious strikingly similar confirm effective...