Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories
- Resource Type
- Authors
- Michèle Ramsay; Francisco C. Ceballos; Scott Hazelhurst
- Source
- Human Genetics. 138:1123-1142
- Subject
- Data Analysis
Demographic history
Population
Black People
Consanguinity
Biology
Runs of Homozygosity
Somali
03 medical and health sciences
Genetic variation
Genetics
Humans
SNP
education
Africa South of the Sahara
Crosses, Genetic
Genetics (clinical)
Demography
030304 developmental biology
0303 health sciences
education.field_of_study
Geography
Homozygote
030305 genetics & heredity
Genetic Variation
Genomics
language.human_language
Genetics, Population
Evolutionary biology
Endogamy
language
- Language
- ISSN
- 1432-1203
0340-6717
The study of runs of homozygosity (ROH) can shed light on population demographic history and cultural practices. We present a fine-scale ROH analysis of 1679 individuals from 28 sub-Saharan African (SSA) populations along with 1384 individuals from 17 worldwide populations. Using high-density SNP coverage, we could accurately identify ROH > 300 kb using PLINK software. The genomic distribution of ROH was analysed through the identification of ROH islands and regions of heterozygosity (RHZ). The analyses showed a heterogeneous distribution of autozygosity across SSA, revealing complex demographic histories. They highlight differences between African groups and can differentiate the impact of consanguineous practices (e.g. among the Somali) from endogamy (e.g. among several Khoe and San groups). Homozygosity cold and hotspots were shown to harbour multiple protein coding genes. Studying ROH therefore not only sheds light on population history, but can also be used to study genetic variation related to adaptation and potentially to the health of extant populations.