Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Year key mutation first reported: 2011
Species-specific name: Hyaluronanosis; Familial Shar-Pei fever; Hereditary cutaneous mucinosis; Canine Autoinflammatory Disease (AID); Shar-Pei Autoinflammatory Disease (SPAID)
Species-specific symbol: FSF; AID; SPAID
More detail information can see in
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB73 | Chinese Shar-Pei | 45.7-50.8 cm | 20.4-27.2 kg | China |
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| HAS2 | hyaluronan synthase 2 | Canis lupus familiaris | Chr13 : 20697736 - 20646614 | Homologene, Ensembl, NCBI gene |
| MTBP | MDM2 binding protein | Canis lupus familiaris | Chr13 : 19644280 - 19710517 | Homologene, Ensembl, NCBI gene |
| 2017 |
Metzger,J.,Nolte,A.,Uhde,A.K.,Hewicker-Trautwein,M.,Distl,O.: :
Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID). BMC Genomics 18:348, 2017. Pubmed reference: 28472921 . DOI: 10.1186/s12864-017-3737-z . |
| 2016 |
Olsson,M.,Kierczak,M.,Karlsson,Å.,Jabłońska,J.,Leegwater,P.,Koltookian,M.,Abadie,J.,DeCitres,C.D.,Thomas,A.,Hedhammar,Å.,Tintle,L.,Lindblad-Toh,K.,Meadows,J.R.: :
Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease. BMC Genomics 17:299, 2016. Pubmed reference: 27107962 . DOI: 10.1186/s12864-016-2619-0 . |
| 2014 |
Metzger,J.,Distl,O.: :
A study of Shar-Pei dogs refutes association of the 'meatmouth' duplication near HAS2 with Familial Shar-Pei Fever. Anim Genet 45:763-4, 2014. Pubmed reference: 25040095 . DOI: 10.1111/age.12193 . |
| 2013 |
Olsson,M.,Tintle,L.,Kierczak,M.,Perloski,M.,Tonomura,N.,Lundquist,A.,Murén,E.,Fels,M.,Tengvall,K.,Pielberg,G.,DufauredeCitres,C.,Dorso,L.,Abadie,J.,Hanson,J.,Thomas,A.,Leegwater,P.,Hedhammar,A.,Lindblad-Toh,K.,Meadows,J.R.: :
Thorough Investigation of a Canine Autoinflammatory Disease (AID) Confirms One Main Risk Locus and Suggests a Modifier Locus for Amyloidosis. PLoS One 8:e75242, 2013. Pubmed reference: 24130694 . DOI: 10.1371/journal.pone.0075242 . |
| 2011 |
Docampo,M.J.,Zanna,G.,Fondevila,D.,Cabrera,J.,López-Iglesias,C.,Carvalho,A.,Cerrato,S.,Ferrer,L.,Bassols,A.: :
Increased HAS2-driven hyaluronic acid synthesis in shar-pei dogs with hereditary cutaneous hyaluronosis (mucinosis). Vet Dermatol 22:535-45, 2011. Pubmed reference: 21718367 . DOI: 10.1111/j.1365-3164.2011.00986.x . |
| 2011 |
Olsson,M.,Meadows,J.R.,Truvé,K.,RosengrenPielberg,G.,Puppo,F.,Mauceli,E.,Quilez,J.,Tonomura,N.,Zanna,G.,Docampo,M.J.,Bassols,A.,Avery,A.C.,Karlsson,E.K.,Thomas,A.,Kastner,D.L.,Bongcam-Rudloff,E.,Webster,M.T.,Sanchez,A.,Hedhammar,A.,Remmers,E.F.,Andersson,L.,Ferrer,L.,Tintle,L.,Lindblad-Toh,K.: :
A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs. PLoS Genet 7:e1001332, 2011. Pubmed reference: 21437276 . DOI: 10.1371/journal.pgen.1001332 . |
| 2010 |
Akey,JM.,Ruhe,AL.,Akey,DT.,Wong,AK.,Connelly,CF.,Madeoy,J.,Nicholas,TJ.,Neff,MW.: :
Tracking footprints of artificial selection in the dog genome. Proc Natl Acad Sci U S A 107:1160-5, 2010. Pubmed reference: 20080661 . DOI: 10.1073/pnas.0909918107 . |
| 2009 |
Zanna,G.,Docampo,M.J.,Fondevila,D.,Bardagí,M.,Bassols,A.,Ferrer,L.: :
Hereditary cutaneous mucinosis in shar pei dogs is associated with increased hyaluronan synthase-2 mRNA transcription by cultured dermal fibroblasts. Vet Dermatol 20:377-82, 2009. Pubmed reference: 20178474 . DOI: 10.1111/j.1365-3164.2009.00799.x . |
| 1992 |
Rivas,AL.,Tintle,L.,Kimball,ES.,Scarlett,J.,Quimby,FW.: :
A canine febrile disorder associated with elevated interleukin-6. Clin Immunol Immunopathol 64:36-45, 1992. Pubmed reference: 1606750 . |