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

G Bertorelle, F Raffini, M Bosse, C Bortoluzzi… - Nature Reviews …, 2022 - nature.com
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 …

Quantifying temporal genomic erosion in endangered species

D Díez-del-Molino, F Sánchez-Barreiro, I Barnes… - Trends in Ecology & …, 2018 - cell.com
Many species have undergone dramatic population size declines over the past centuries.
Although stochastic genetic processes during and after such declines are thought to elevate …

Evaluating the genetics of common variable immunodeficiency: monogenetic model and beyond

G de Valles-Ibáñez, A Esteve-Sole, M Piquer… - Frontiers in …, 2018 - frontiersin.org
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary
immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor …

Next‐generation metrics for monitoring genetic erosion within populations of conservation concern

G Leroy, EL Carroll, MW Bruford… - Evolutionary …, 2018 - Wiley Online Library
Genetic erosion is a major threat to biodiversity because it can reduce fitness and ultimately
contribute to the extinction of populations. Here, we explore the use of quantitative metrics to …

Less is more, natural loss-of-function mutation is a strategy for adaptation

YC Xu, YL Guo - Plant Communications, 2020 - cell.com
Gene gain and loss are crucial factors that shape the evolutionary success of diverse
organisms. In the past two decades, more attention has been paid to the significance of …

Severe inbreeding, increased mutation load and gene loss-of-function in the critically endangered Devils Hole pupfish

D Tian, AH Patton, BJ Turner… - Proceedings of the …, 2022 - royalsocietypublishing.org
Small populations with limited range are often threatened by inbreeding and reduced
genetic diversity, which can reduce fitness and exacerbate population decline. One of the …

Adaptation and phenotypic diversification in Arabidopsis through loss-of-function mutations in protein-coding genes

YC Xu, XM Niu, XX Li, W He, JF Chen, YP Zou… - The Plant …, 2019 - academic.oup.com
According to the less-is-more hypothesis, gene loss is an engine for evolutionary change.
Loss-of-function (LoF) mutations resulting in the natural knockout of protein-coding genes …

Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions

S Han, AM Andrés, T Marques-Bonet… - Genome biology and …, 2019 - academic.oup.com
Chimpanzees (Pan troglodytes) and bonobos (Pan paniscus) are the closest living relatives
of humans, but the two species show distinct behavioral and physiological differences …

Nonsense mutations in eukaryotes

NA Potapova - Biochemistry (Moscow), 2022 - Springer
Nonsense mutations are a type of mutations which results in a premature termination codon
occurrence. In general, these mutations have been considered to be among the most …

Assessment of the gene mosaicism burden in blood and its implications for immune disorders

M Solís-Moruno, A Mensa-Vilaró, L Batlle-Masó… - Scientific reports, 2021 - nature.com
There are increasing evidences showing the contribution of somatic genetic variants to non-
cancer diseases. However, their detection using massive parallel sequencing methods still …