RRC ID 27742
Author Kuramoto T, Nakanishi S, Ochiai M, Nakagama H, Voigt B, Serikawa T.
Title Origins of albino and hooded rats: implications from molecular genetic analysis across modern laboratory rat strains.
Journal PLoS One
Abstract Albino and hooded (or piebald) rats are one of the most frequently used laboratory animals for the past 150 years. Despite this fact, the origin of the albino mutation as well as the genetic basis of the hooded phenotype remained unclear. Recently, the albino mutation has been identified as the Arg299His missense mutation in the Tyrosinase gene and the hooded (H) locus has been mapped to the ∼460-kb region in which only the Kit gene exists. Here, we surveyed 172 laboratory rat strains for the albino mutation and the hooded (h) mutation that we identified by positional cloning approach to investigate possible genetic roots and relationships of albino and hooded rats. All of 117 existing laboratory albino rats shared the same albino missense mutation, indicating they had only one single ancestor. Genetic fine mapping followed by de novo sequencing of BAC inserts covering the H locus revealed that an endogenous retrovirus (ERV) element was inserted into the first intron of the Kit gene where the hooded allele maps. A solitary long terminal repeat (LTR) was found at the same position to the ERV insertion in another allele of the H locus, which causes the so called Irish (h(i)) phenotype. The ERV and the solitary LTR insertions were completely associated with the hooded and Irish coat patterns, respectively, across all colored rat strains examined. Interestingly, all 117 albino rat strains shared the ERV insertion without any exception, which strongly suggests that the albino mutation had originally occurred in hooded rats.
Volume 7(8)
Pages e43059
Published 2012-1-1
DOI 10.1371/journal.pone.0043059
PII PONE-D-12-18059
PMID 22916206
PMC PMC3420875
MeSH Albinism / genetics* Animals Animals, Laboratory Introns / genetics Mutation / genetics Mutation, Missense / genetics Piebaldism / genetics* Rats Retroviridae Terminal Repeat Sequences / genetics
IF 2.74
Times Cited 12
DNA material Rat BAC RNB1-043O06 Rat BAC RNB2-482C01
Rats ACI/Nkyo(strainID=6) WTC/Kyo(strainID=18) BN/SsNSlc(strainID=371) TM/Kyo(strainID=10) GRY/Idr(strainID=498) DA/Slc(strainID=380) IS/Kyo(strainID=5) F344/NSlc(strainID=379)