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Animal genetics2016; 48(3); 255-271; doi: 10.1111/age.12526

Runs of homozygosity: current knowledge and applications in livestock.

Abstract: This review presents a broader approach to the implementation and study of runs of homozygosity (ROH) in animal populations, focusing on identifying and characterizing ROH and their practical implications. ROH are continuous homozygous segments that are common in individuals and populations. The ability of these homozygous segments to give insight into a population's genetic events makes them a useful tool that can provide information about the demographic evolution of a population over time. Furthermore, ROH provide useful information about the genetic relatedness among individuals, helping to minimize the inbreeding rate and also helping to expose deleterious variants in the genome. The frequency, size and distribution of ROH in the genome are influenced by factors such as natural and artificial selection, recombination, linkage disequilibrium, population structure, mutation rate and inbreeding level. Calculating the inbreeding coefficient from molecular information from ROH (F ) is more accurate for estimating autozygosity and for detecting both past and more recent inbreeding effects than are estimates from pedigree data (F ). The better results of F suggest that F can be used to infer information about the history and inbreeding levels of a population in the absence of genealogical information. The selection of superior animals has produced large phenotypic changes and has reshaped the ROH patterns in various regions of the genome. Additionally, selection increases homozygosity around the target locus, and deleterious variants are seen to occur more frequently in ROH regions. Studies involving ROH are increasingly common and provide valuable information about how the genome's architecture can disclose a population's genetic background. By revealing the molecular changes in populations over time, genome-wide information is crucial to understanding antecedent genome architecture and, therefore, to maintaining diversity and fitness in endangered livestock breeds.
© 2016 Stichting International Foundation for Animal Genetics.
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Publication Date: 2016-12-01 PubMed ID: 27910110DOI: 10.1111/age.12526Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research article reviews the concept and applications of “runs of homozygosity” (or ROH) in animal populations, and how it can provide insights into genetic events, relationships, and evolution over time.

Understanding Runs of Homozygosity (ROH)

  • Runs of Homozygosity (ROH) are described as continuous homozygous segments that are common in individual populations. These sequences help in understanding the genetic events and evolutionary trends in populations over time.
  • They’re deemed beneficial for tracing the demographic evolution of a population, investigating genetic relationships among individuals, minimising inbreeding rates, and exposing harmful variants in the genome.
  • The study lays importance on deriving ROH for the above critical genetic significances.

Factors influencing ROH

  • Various factors like natural and artificial selection, recombination, linkage disequilibrium, population structure, mutation rate, and inbreeding level determine the frequency, size, and distribution of ROH in the genome.
  • The interaction and effect of these factors on ROH formation and distribution is a focus area in this research study.

Benefits of Inbreeding Coefficient Calculations from ROH

  • Another value of ROH is seen in calculating the inbreeding coefficient (F). The researchers note that estimates derived from molecular information from ROH are more precise in estimating autozygosity and detecting both past and recent inbreeding effects compared to those from pedigree data.
  • This implies that the inbreeding coefficient derived from ROH can offer valuable information about a population’s history and inbreeding levels, useful even when genealogical information is lacking.

Implications of Selection and ROH

  • The review also mentions that selection of superior animals has altered the phenotypic features significantly and reshaped the ROH patterns in diverse regions of the genome.
  • Notably, selection increases homozygosity around the target locus, and harmful variants are found more often in ROH regions – another reason why studying ROH is important.

Significance of ROH Studies

  • With studies involving ROH increasingly common, they are seen as providing priceless data about a population’s genetic background and the potential changes in the genome’s architecture.
  • By revealing molecular changes in populations over time, genome-wide data becomes critical for understanding previous genome architecture, maintaining diversity, and fitness in endangered livestock breeds.

Cite This Article

APA
Peripolli E, Munari DP, Silva MVGB, Lima ALF, Irgang R, Baldi F. (2016). Runs of homozygosity: current knowledge and applications in livestock. Anim Genet, 48(3), 255-271. https://doi.org/10.1111/age.12526

Publication

Animal genetics
ISSN: 1365-2052
NlmUniqueID: 8605704
Country: England
Language: English
Volume: 48
Issue: 3
Pages: 255-271

Researcher Affiliations

Peripolli, E
  • Departamento de Zootecnia, Faculdade de Ciências Agrárias e Veterinárias, UNESP Univ Estadual Paulista Júlio de Mesquita Filho, Jaboticabal, 14884-900, Brazil.
Munari, D P
  • Departamento de Ciências Exatas, Faculdade de Ciências Agrárias e Veterinárias, UNESP Univ Estadual Paulista Júlio de Mesquita Filho, Jaboticabal, 14884-900, Brazil.
  • Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPQ), Lago Sul, 71605-001, Brazil.
Silva, M V G B
  • Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPQ), Lago Sul, 71605-001, Brazil.
  • Embrapa Gado de Leite, Juiz de Fora, 36038-330, Brazil.
Lima, A L F
  • Departamento de Zootecnia e Desenvolvimento Rural, Centro de Ciências Agrárias, Universidade Federal de Santa Catarina, Florianópolis, 88034-000, Brazil.
Irgang, R
  • Departamento de Zootecnia e Desenvolvimento Rural, Centro de Ciências Agrárias, Universidade Federal de Santa Catarina, Florianópolis, 88034-000, Brazil.
Baldi, F
  • Departamento de Zootecnia, Faculdade de Ciências Agrárias e Veterinárias, UNESP Univ Estadual Paulista Júlio de Mesquita Filho, Jaboticabal, 14884-900, Brazil.
  • Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPQ), Lago Sul, 71605-001, Brazil.

MeSH Terms

  • Animals
  • Cattle
  • Genetic Variation
  • Genetics, Population
  • Goats
  • Homozygote
  • Horses
  • Inbreeding
  • Linkage Disequilibrium
  • Livestock / genetics
  • Sequence Analysis, DNA
  • Sheep, Domestic
  • Swine

Citations

This article has been cited 181 times.
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