EDGE CMT: deleterious recessive variation - from experimental data to predictive models

NIH RePORTER · NIH · R01 · $373,797 · view on reporter.nih.gov ↗

Abstract

In population samples, segregating recessive variants at low frequency are largely inaccessible to study. This project uses an experimental system in which rare alleles have been made common, recessive alleles can be homozygosed on demand, and cumulative effects of large numbers of small-effect variants can be measured in an unbiased way. The project centers on the nematode Caenorhabditis becei, which has all the experimental virtues of C. elegans but with a mating system and population biology that make it better suited to questions about genetic diversity in general and recessive variation in particular. This project will measure sex-specific competitive fitnesses and sex- and allele-specific transcript abundances in a specially designed panel of C. becei to reveal the architecture of segregating recessive variation and its molecular characteristics. The data will address basic questions in evolutionary biology while generating generalizable gene- and variant-scale models that predict whether variants are likely to have recessive effects.

Key facts

NIH application ID
10789970
Project number
5R01HG013015-02
Recipient
NEW YORK UNIVERSITY
Principal Investigator
Matthew Rockman
Activity code
R01
Funding institute
NIH
Fiscal year
2024
Award amount
$373,797
Award type
5
Project period
2023-02-17 → 2026-01-31