RGD Reference Report - QTL analysis of modifiers for pigmentary disorder in rats carrying Ednrb(sl) mutations. - Rat Genome Database

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QTL analysis of modifiers for pigmentary disorder in rats carrying Ednrb(sl) mutations.

Authors: Huang, J  Dang, R  Torigoe, D  Li, A  Lei, C  Sasaki, N  Wang, J  Agui, T 
Citation: Huang J, etal., Sci Rep. 2016 Jan 22;6:19697. doi: 10.1038/srep19697.
RGD ID: 10755346
Pubmed: PMID:26796131   (View Abstract at PubMed)
PMCID: PMC4726237   (View Article at PubMed Central)
DOI: DOI:10.1038/srep19697   (Journal Full-text)

Pigmentary variation in animals has been studied because of its application in genetics, evolution, and developmental biology. The large number of known color loci provides rich resource to elucidate the functional pigmentary system. Nonetheless, more color loci remain to be identified. In our previous study, we revealed that two different strains, namely, AGH rats and LEH rats, but which had the same null mutation of the Ednrb gene (Ednrb(sl)) showed markedly different pigmented coat ratio. This result strongly suggested that the severity of pigment abnormality was modified by genetic factor(s) in each strain. To elucidate the modifier locus of pigment disorder, we carried out whole-genome scanning for quantitative trait loci (QTLs) on 149 F2 (AGH-Ednrb(sl) x LEH-Ednrb(sl)) rats. A highly significant QTL, constituting 26% of the total pigmentation phenotype variance, was identified in a region around D7Got23 on chromosome (Chr) 7. In addition, investigation on epistatic interaction revealed significant interactions between D7Got23 and D3Rat78 and between D7Got23 and D14Mit4. Results suggested that a modified locus on Chr 7 was mainly responsible for the variance of pigmentary disorder between AGH-Ednrb(sl) rats and LEH-Ednrb(sl) rats, and two modifier loci showing epistatic interaction may, in part, influence pigment phenotype.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
AR-Ednrbsl/HkvRatHypopigmentation MODELIAGP compared to LE/Hkv.AR-EdnrbslRGD 
EDNRBHumanHypopigmentation  ISOEdnrb (Rattus norvegicus)compared to AR-Ednrbsl/HkvRGD 
EdnrbRatHypopigmentation  IAGP compared to LE/Hkv.AR-EdnrbslRGD 
EdnrbMouseHypopigmentation  ISOEdnrb (Rattus norvegicus)compared to AR-Ednrbsl/HkvRGD 
EdnrbslRatHypopigmentation  IAGP compared to AR-Ednrbsl/HkvRGD 
LEH/HkvRatHypopigmentation MODEL: controlIAGP compared to AR-Ednrbsl/HkvRGD 
Coatc10Ratpigmentation disease  IAGP  RGD 
Coatc11Ratpigmentation disease  IAGP  RGD 
Coatc12Ratpigmentation disease  IAGP  RGD 
Coatc13Ratpigmentation disease  IAGP  RGD 
Coatc14Ratpigmentation disease  IAGP  RGD 
Coatc15Ratpigmentation disease  IAGP  RGD 
Coatc16Ratpigmentation disease  IAGP  RGD 
Coatc6Ratpigmentation disease  IAGP  RGD 
Coatc7Ratpigmentation disease  IAGP  RGD 
Coatc8Ratpigmentation disease  IAGP  RGD 
Coatc9Ratpigmentation disease  IAGP  RGD 

Phenotype Annotations    Click to see Annotation Detail View
Objects Annotated

Genes (Rattus norvegicus)
Ednrb  (endothelin receptor type B)
Ednrbsl  (endothelin receptor type B, spotting lethal)

Genes (Mus musculus)
Ednrb  (endothelin receptor type B)

Genes (Homo sapiens)
EDNRB  (endothelin receptor type B)

QTLs
Coatc10  (Coat color QTL 10)
Coatc11  (Coat color QTL 11)
Coatc12  (Coat color QTL 12)
Coatc13  (Coat color QTL 13)
Coatc14  (Coat color QTL 14)
Coatc15  (Coat color QTL 15)
Coatc16  (Coat color QTL 16)
Coatc6  (Coat color QTL 6)
Coatc7  (Coat color QTL 7)
Coatc8  (Coat color QTL 8)
Coatc9  (Coat color QTL 9)

Strains
AR-Ednrbsl/Hkv  (Aganglionosis rat)
LEH/Hkv  (Aganglionosis rat)

Objects referenced in this article
QTL Ednrbm1_m endothelin receptor type B modifier 1 (mouse) Mus musculus

Additional Information