RGD Reference Report - Association of a mutation in TRPV3 with defective hair growth in rodents. - Rat Genome Database

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Association of a mutation in TRPV3 with defective hair growth in rodents.

Authors: Asakawa, Makoto  Yoshioka, Takeshi  Matsutani, Takaji  Hikita, Ichiro  Suzuki, Minoru  Oshima, Itsuki  Tsukahara, Kiyoshi  Arimura, Akinori  Horikawa, Tatsuya  Hirasawa, Tsutomu  Sakata, Tsuneaki 
Citation: Asakawa M, etal., J Invest Dermatol. 2006 Dec;126(12):2664-72. doi: 10.1038/sj.jid.5700468. Epub 2006 Jul 20.
RGD ID: 150520053
Pubmed: PMID:16858425   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.jid.5700468   (Journal Full-text)

DS-Nh mice and WBN/Kob-Ht rats are spontaneous hairless mutant rodent strains. These animals develop spontaneous dermatitis under normal conditions. The non-hair Nh and Ht phenotypes are inherited in an autosomal dominant fashion, and the Nh mutation possesses a high potency for penetration. We previously reported that genes involved in dermatitis and hairlessness did not segregate from each other. Here, we carried out genetic analysis to identify the genes responsible for these hairless mutations. An amino-acid substitution at the same position in one gene was detected in DS-Nh mice and WBN/Kob-Ht rats: Gly573 to Ser (Nh mutation) or Gly573 to Cys (Ht mutation), located in the transient receptor potential (TRP) cation channel subfamily V member 3 (TRPV3) gene. Mutated TRPV3 was expressed in skin keratinocytes of DS-Nh mice. Histopathological analyses revealed that mast cells in skin lesions were increased in both rodents compared to their age-matched parent strains, and that this may partially be due to hairlessness and dermatitis. We concluded that TRPV3 was the gene responsible for Nh and Ht mutations, and that mutation in TRPV3 possibly correlated with increased mast cell numbers.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
TRPV3Humanalopecia  ISOTrpv3 (Rattus norvegicus)DNA:missense mutation:cds:G1717T (rat)RGD 
Trpv3Mousealopecia  ISOTrpv3 (Rattus norvegicus)DNA:missense mutation:cds:G1717T (rat)RGD 
Trpv3Ratalopecia  IAGP DNA:missense mutation:cds:G1717T (rat)RGD 
WBN-Ht/KobRatalopecia  IAGP compared to wild typeRGD 
TRPV3Humandermatitis  ISOTrpv3 (Rattus norvegicus)DNA:missense mutation:cds:G1717T (rat)RGD 
Trpv3Mousedermatitis  ISOTrpv3 (Rattus norvegicus)DNA:missense mutation:cds:G1717T (rat)RGD 
Trpv3Ratdermatitis  IAGP DNA:missense mutation:cds:G1717T (rat)RGD 
WBN-Ht/KobRatdermatitis  IAGP compared to wild typeRGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Trpv3Ratincreased mast cell number  IAGP DNA:missense mutation:cds:G1717T ratRGD 
WBN-Ht/KobRatincreased mast cell number  IAGP compared to wild typeRGD 
Objects Annotated

Genes (Rattus norvegicus)
Trpv3  (transient receptor potential cation channel, subfamily V, member 3)

Genes (Mus musculus)
Trpv3  (transient receptor potential cation channel, subfamily V, member 3)

Genes (Homo sapiens)
TRPV3  (transient receptor potential cation channel subfamily V member 3)

Strains
WBN-Ht/Kob  (NA)


Additional Information