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Research Publication

The relationship between genomic variation and genetic load: insights from small island populations.

Gabrielli Maëva, M Benazzo, Andrea A et al.

41904331 PubMed ID
13 Authors
2026-03-28 Published
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

GM
Gabrielli Maëva
MB
M Benazzo
AA
Andrea A
BR
Biello Roberto
RI
R Iannucci
AA
Alessio A
SD
Salvi Daniele
DF
D Ficetola
GF
Gentile Francesco GF
CC
Ciofi Claudio
CT
C Trucchi
EE
Emiliano E
BG
Bertorelle Giorgio
Chapter II

Abstract

Summary of the research findings

Small populations face high extinction risks. This can be explained by several non-genetic and genetic factors, the latter including the loss of genetic diversity and evolutionary potential, as well as the accumulation of harmful mutations (genetic load). Using whole-genome data from island populations with different effective sizes, we estimated genetic variation and load and explored the relationship between these quantities. An extremely small population of the Aeolian wall lizard, Podarcis raffonei, likely isolated for tens of thousands of years, shows the lowest genome-wide heterozygosity observed in wild eukaryotes (one polymorphic site every 300 kb on average). Despite this, its realized genetic load is comparable to that observed in another larger and more genetically variable population. Both populations have lower variation and higher load than the much more abundant sister species, the Sicilian wall lizard. These observations are consistent with the hypothesis that populations experiencing severe bottlenecks may persist for extended periods with extremely low genomic variation, provided that their burden of deleterious mutations remains within tolerable bounds.

Chapter III

Analysis

Comprehensive review of ancestry and genetic findings

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Summary

Key Findings

Ancestry Insights

Traits Analysis

Historical Context

Scientific Assessment