RRC ID 47738
著者 Yoshihara M, Sato T, Saito D, Ohara O, Kuramoto T, Suyama M.
タイトル A deletion in the intergenic region upstream of Ednrb causes head spot in the rat strain KFRS4/Kyo.
ジャーナル BMC Genet
Abstract BACKGROUND:Head spot is one of the phenotypes identified in the KFRS4/Kyo rat strain. Although previous linkage analysis suggested that Ednrb, which is frequently involved in coat color variations in various animals, could be the gene responsible for this phenotype, no mutations have been identified in its coding region.
RESULTS:To identify mutations causative of this phenotype in KFRS4/Kyo, we analyzed target capture sequencing data that we recently generated. Our target capture method has a unique feature, i.e., it covers not only exonic regions but also conserved non-coding sequences (CNSs) among vertebrates; therefore, it has the potential to detect regulatory mutations. We identified a deletion of approximately 50 kb in length approximately 50 kb upstream of Ednrb. A comparative analysis with the epigenomic data in the corresponding region in humans and mice showed that one of the CNSs might be an enhancer. Further comparison with Hi-C data, which provide information about chromosome conformation, indicated that the putative enhancer is spatially close to the promoter of Ednrb, suggesting that it acts as an enhancer of Ednrb.
CONCLUSIONS:These in silico data analyses strongly suggest that the identified deletion in the intergenic region upstream of Ednrb, which might contain a melanocyte-specific enhancer, is the mutation causative of the head spot phenotype in the KFRS4/Kyo rat strain.
巻・号 18(1)
ページ 29
公開日 2017-3-29
DOI 10.1186/s12863-017-0497-3
PII 10.1186/s12863-017-0497-3
PMID 28356074
PMC PMC5372274
MeSH Animals Chromosome Mapping / methods* Computer Simulation DNA, Intergenic* Epigenomics Humans Mice Phenotype Promoter Regions, Genetic Rats Receptor, Endothelin B / genetics* Sequence Analysis, DNA Sequence Deletion*
IF 2.567
引用数 4
WOS 分野 GENETICS & HEREDITY
リソース情報
ラット KFRS4/Kyo (strainID=919)