bioRxivJClub
Classical guinea pig coat phenotypes are associated with variants in FGF5 and CELSR1
bioRxiv · · Preprint · Open access
Halley, Bierle + 4 more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
A premature stop codon in FGF5 is linked to the long-fur coat phenotype in domestic guinea pigs (Cavia porcellus), confirming a prior candidate variant.
- Why it matters: Classical guinea pig coat traits were foundational for genetics, but their molecular causes were unclear, limiting how these phenotypes inform mammalian gene function.
- What they did: Genome-wide association mapping using exome and whole-genome sequencing data identified loci for long fur and rough coat, resolving each to specific coding variants in FGF5 and CELSR1.
- The result: A dominant in-frame proline insertion in CELSR1 is associated with rough coat in guinea pigs, implying a distinct mode of planar cell polarity disruption without the severe developmental defects seen in homozygous mouse alleles.
The findingWhy it mattersWhat they didThe result
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