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

Proc Natl Acad Sci U S A. 2023 Oct 24;120(43):e2303043120. doi: 10.1073/pnas.2303043120. Epub 2023 Oct 16.

Abstract

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.

Keywords: Sistrurus catenatus; adaptive variation; conservation genomics; mutation load; neutral and functional genomic diversity.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Crotalus* / genetics
  • Endangered Species
  • Genetic Variation*
  • Genome / genetics
  • Genomics / methods
  • Humans
  • Inbreeding

Associated data

  • Dryad/10.5061/dryad.r4xgxd2k2