Functional genomic diversity is correlated with neutral genomic diversity in populations of an endangered rattlesnake

Функциональное геномное разнообразие коррелирует с нейтральным геномным разнообразием в популяциях находящейся под угрозой исчезновения гремучей змеи
Samarth Mathur, Andrew J. Mason, Gideon S. Bradburd, H. Lisle Gibbs
2023-10-16

effective population sizefunctional genetic diversitygenetic erosionmutation loadneutral genetic diversity
Theory predicts that genetic erosion in small, isolated populations of endangered species can be assessed using estimates of neutral genetic variation, yet this widely used approach has recently been questioned in the genomics era. Here, we leverage a chromosome-level genome assembly of an endangered rattlesnake ( Sistrurus catenatus ) combined with whole genome resequencing data (N = 110 individuals) to evaluate the relationship between levels of genome-wide neutral and functional diversity over historical and future timescales. As predicted, we found positive correlations between genome-wide estimates of neutral genetic diversity (π) and inferred levels of adaptive variation and an estimate of inbreeding mutation load, and a negative relationship between neutral diversity and an estimate of drift mutation load. However, these correlations were half as strong for projected future levels of neutral diversity based on contemporary effective population sizes. Broadly, our results confirm that estimates of neutral genetic diversity provide an accurate measure of genetic erosion in populations of a threatened vertebrate. They also provide nuance to the neutral-functional diversity controversy by suggesting that while these correlations exist, anthropogenetic impacts may have weakened these associations in the recent past and into the future.
1
Correlations between neutral diversity and functional genomic measures were approximately half as strong for future projections based on contemporary effective population sizes.
2
Genome-wide neutral genetic diversity (π) positively correlates with inferred adaptive variation and inbreeding mutation load across populations of the endangered massasauga rattlesnake.
3
Neutral genetic diversity generally provides an accurate indicator of genetic erosion in this threatened vertebrate, although anthropogenic impacts may weaken neutral-functional associations over recent and future timescales.
4
Neutral genetic diversity is negatively associated with estimated drift mutation load, indicating greater genetic erosion in populations with lower neutral diversity.
5
The study combines a chromosome-level genome assembly with whole-genome resequencing of 110 individuals to assess neutral-functional diversity relationships across historical and projected future timescales.

Populations of the endangered rattlesnake Sistrurus catenatus

The relationship between genome-wide neutral genetic diversity and functional genetic diversity, including adaptive variation and mutation load, across historical and projected future timescales

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2023-10-16
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Samarth Mathur
Andrew J. Mason
Gideon S. Bradburd
H. Lisle Gibbs
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