Literature DB >> 35136196

Genetic load: genomic estimates and applications in non-model animals.

Giorgio Bertorelle1, Francesca Raffini2, Hernán E Morales3,4, Cock van Oosterhout5, Mirte Bosse6,7, Chiara Bortoluzzi8,9, Alessio Iannucci10, Emiliano Trucchi11.   

Abstract

Genetic variation, which is generated by mutation, recombination and gene flow, can reduce the mean fitness of a population, both now and in the future. This 'genetic load' has been estimated in a wide range of animal taxa using various approaches. Advances in genome sequencing and computational techniques now enable us to estimate the genetic load in populations and individuals without direct fitness estimates. Here, we review the classic and contemporary literature of genetic load. We describe approaches to quantify the genetic load in whole-genome sequence data based on evolutionary conservation and annotations. We show that splitting the load into its two components - the realized load (or expressed load) and the masked load (or inbreeding load) - can improve our understanding of the population genetics of deleterious mutations.
© 2022. Springer Nature Limited.

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Year:  2022        PMID: 35136196     DOI: 10.1038/s41576-022-00448-x

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   59.581


  152 in total

1.  Dynamics of inbreeding depression due to deleterious mutations in small populations: mutation parameters and inbreeding rate.

Authors:  J Wang; W G Hill; D Charlesworth; B Charlesworth
Journal:  Genet Res       Date:  1999-10       Impact factor: 1.588

2.  AN ESTIMATE OF THE MUTATIONAL DAMAGE IN MAN FROM DATA ON CONSANGUINEOUS MARRIAGES.

Authors:  N E Morton; J F Crow; H J Muller
Journal:  Proc Natl Acad Sci U S A       Date:  1956-11       Impact factor: 11.205

3.  Effects of a change in the level of inbreeding on the genetic load.

Authors:  S C Barrett; D Charlesworth
Journal:  Nature       Date:  1991-08-08       Impact factor: 49.962

4.  Our load of mutations.

Authors:  H J MULLER
Journal:  Am J Hum Genet       Date:  1950-06       Impact factor: 11.025

5.  Inbreeding load and purging: implications for the short-term survival and the conservation management of small populations.

Authors:  A Caballero; I Bravo; J Wang
Journal:  Heredity (Edinb)       Date:  2016-09-14       Impact factor: 3.821

6.  Slightly deleterious mutant substitutions in evolution.

Authors:  T Ohta
Journal:  Nature       Date:  1973-11-09       Impact factor: 49.962

7.  Mutation load is the spectre of species conservation.

Authors:  Cock van Oosterhout
Journal:  Nat Ecol Evol       Date:  2020-05-04       Impact factor: 15.460

8.  Inbreeding uncovers fundamental differences in the genetic load affecting male and female fertility in a butterfly.

Authors:  Ilik J Saccheri; Hywel D Lloyd; Sarah J Helyar; Paul M Brakefield
Journal:  Proc Biol Sci       Date:  2005-01-07       Impact factor: 5.349

9.  Nonequivalent lethal equivalents: Models and inbreeding metrics for unbiased estimation of inbreeding load.

Authors:  Pirmin Nietlisbach; Stefanie Muff; Jane M Reid; Michael C Whitlock; Lukas F Keller
Journal:  Evol Appl       Date:  2018-10-23       Impact factor: 5.183

10.  Genetic load has potential in large populations but is realized in small inbred populations.

Authors:  Samarth Mathur; J Andrew DeWoody
Journal:  Evol Appl       Date:  2021-04-10       Impact factor: 5.183

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  6 in total

1.  Sheltering of deleterious mutations explains the stepwise extension of recombination suppression on sex chromosomes and other supergenes.

Authors:  Paul Jay; Emilie Tezenas; Amandine Véber; Tatiana Giraud
Journal:  PLoS Biol       Date:  2022-07-19       Impact factor: 9.593

2.  Genomic erosion in a demographically recovered bird species during conservation rescue.

Authors:  Hazel A Jackson; Lawrence Percival-Alwyn; Camilla Ryan; Mohammed F Albeshr; Luca Venturi; Hernán E Morales; Thomas C Mathers; Jonathan Cocker; Samuel A Speak; Gonzalo G Accinelli; Tom Barker; Darren Heavens; Faye Willman; Deborah Dawson; Lauren Ward; Vikash Tatayah; Nicholas Zuël; Richard Young; Lianne Concannon; Harriet Whitford; Bernardo Clavijo; Nancy Bunbury; Kevin M Tyler; Kevin Ruhomaun; Molly K Grace; Michael W Bruford; Carl G Jones; Simon Tollington; Diana J Bell; Jim J Groombridge; Matt Clark; Cock Van Oosterhout
Journal:  Conserv Biol       Date:  2022-05-12       Impact factor: 7.563

3.  Metaeffector interactions modulate the type III effector-triggered immunity load of Pseudomonas syringae.

Authors:  Alexandre Martel; Bradley Laflamme; Clare Breit-McNally; Pauline Wang; Fabien Lonjon; Darrell Desveaux; David S Guttman
Journal:  PLoS Pathog       Date:  2022-05-16       Impact factor: 7.464

4.  Accounting for the genetic load in assisted reproductive technology.

Authors:  Cock van Oosterhout; Daniel Marcu; Simone Immler
Journal:  Clin Transl Med       Date:  2022-05

5.  The Threatened Species Imperative: Conservation assessments would benefit from population genomic insights.

Authors:  J Andrew DeWoody; Jong Yoon Jeon; John W Bickham; Erangi J Heenkenda; Safia Janjua; Gina F Lamka; Andrew J Mularo; Andrew Black; Anna Brüniche-Olsen; Janna R Willoughby
Journal:  Proc Natl Acad Sci U S A       Date:  2022-08-15       Impact factor: 12.779

Review 6.  Challenges in quantifying genome erosion for conservation.

Authors:  Mirte Bosse; Sam van Loon
Journal:  Front Genet       Date:  2022-09-26       Impact factor: 4.772

  6 in total

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