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Volumn 7, Issue 3, 2011, Pages

A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs

(24)  Olsson, Mia a   Meadows, Jennifer R S a   Truvé, Katarina b   Pielberg, Gerli Rosengren a   Puppo, Francesca c   Mauceli, Evan d   Quilez, Javier e   Tonomura, Noriko d   Zanna, Giordana e   Docampo, Maria José e   Bassols, Anna e   Avery, Anne C f   Karlsson, Elinor K d,g   Thomas, Anne h   Kastner, Daniel L c   Bongcam Rudloff, Erik a   Webster, Matthew T a   Sanchez, Armand e   Hedhammar, Åke b   Remmers, Elaine F c   more..


Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSAMINOGLYCAN; HYALURONIC ACID SYNTHASE 2; SYNTHETASE; UNCLASSIFIED DRUG; GLUCURONOSYLTRANSFERASE; HYALURONIC ACID;

EID: 79953735868     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1001332     Document Type: Article
Times cited : (116)

References (41)
  • 4
    • 52949103331 scopus 로고    scopus 로고
    • Cutaneous mucinosis in shar-pei dogs is due to hyaluronic acid deposition and is associated with high levels of hyaluronic acid in serum
    • Zanna G, Fondevila D, Bardagi M, Docampo MJ, Bassols A, et al. (2008) Cutaneous mucinosis in shar-pei dogs is due to hyaluronic acid deposition and is associated with high levels of hyaluronic acid in serum. Vet Dermatol 19: 314-318.
    • (2008) Vet Dermatol , vol.19 , pp. 314-318
    • Zanna, G.1    Fondevila, D.2    Bardagi, M.3    Docampo, M.J.4    Bassols, A.5
  • 5
    • 0033911066 scopus 로고    scopus 로고
    • A new disorder of hyaluronan metabolism associated with generalized folding and thickening of the skin
    • Ramsden CA, Bankier A, Brown TJ, Cowen PSJ, Frost GI, (2000) A new disorder of hyaluronan metabolism associated with generalized folding and thickening of the skin. J of Ped 36: 62-68.
    • (2000) J of Ped , vol.36 , pp. 62-68
    • Ramsden, C.A.1    Bankier, A.2    Brown, T.J.3    Cowen, P.S.J.4    Frost, G.I.5
  • 7
    • 73149096691 scopus 로고    scopus 로고
    • Hereditary cutaneous mucinosis in Shar-Pei dogs is associated with increases hyaluronan synthase-2 mRNA transcription by cultured dermal fibroblasts
    • Zanna G, Docampo MJ, Fondevila D, Bardagi M, Bassols A, et al. (2009) Hereditary cutaneous mucinosis in Shar-Pei dogs is associated with increases hyaluronan synthase-2 mRNA transcription by cultured dermal fibroblasts. Vet Dermatol 20: 377-382.
    • (2009) Vet Dermatol , vol.20 , pp. 377-382
    • Zanna, G.1    Docampo, M.J.2    Fondevila, D.3    Bardagi, M.4    Bassols, A.5
  • 9
    • 27344448749 scopus 로고    scopus 로고
    • Familial autoinflammatory diseases: genetics, pathogenesis and treatment
    • Stojanov S, Kastner DL, (2005) Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 17 (5): 586-599.
    • (2005) Curr Opin Rheumatol , vol.17 , Issue.5 , pp. 586-599
    • Stojanov, S.1    Kastner, D.L.2
  • 10
    • 0016220238 scopus 로고
    • The hitchhiking effect of a favorable gene
    • Smith JM, Haigh J, (1974) The hitchhiking effect of a favorable gene. Genetic Research 23: 23-35.
    • (1974) Genetic Research , vol.23 , pp. 23-35
    • Smith, J.M.1    Haigh, J.2
  • 11
    • 75749154475 scopus 로고    scopus 로고
    • Tracking footprints of artificial selection in the dog genome
    • Akey JM, Ruhe AL, Akey DT, Wong AK, Conelly CF, et al. (2010) Tracking footprints of artificial selection in the dog genome. PNAS 19: 1160-1165.
    • (2010) PNAS , vol.19 , pp. 1160-1165
    • Akey, J.M.1    Ruhe, A.L.2    Akey, D.T.3    Wong, A.K.4    Conelly, C.F.5
  • 12
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: a tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.5
  • 13
    • 23044465730 scopus 로고    scopus 로고
    • Natural Antisense mRNAs to Hyaluronan Synthase 2 Inhibit Hyaluronan Biosynthesis and Cell Proliferation
    • Chao H, Spicer AP, (2005) Natural Antisense mRNAs to Hyaluronan Synthase 2 Inhibit Hyaluronan Biosynthesis and Cell Proliferation. J Biol Chem 19: 27513-27522.
    • (2005) J Biol Chem , vol.19 , pp. 27513-27522
    • Chao, H.1    Spicer, A.P.2
  • 14
    • 0036801609 scopus 로고    scopus 로고
    • A large duplication associated with dominant white color in pigs originated by homologous recombination between LINE elements flanking KIT
    • Giuffra E, Törnsten A, Marklund S, Bongcam-Rudloff E, Chardon P, et al. (2002) A large duplication associated with dominant white color in pigs originated by homologous recombination between LINE elements flanking KIT. Mamm Genome 13 (10): 569-77.
    • (2002) Mamm Genome , vol.13 , Issue.10 , pp. 569-577
    • Giuffra, E.1    Törnsten, A.2    Marklund, S.3    Bongcam-Rudloff, E.4    Chardon, P.5
  • 15
    • 48349098128 scopus 로고    scopus 로고
    • A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse
    • Rosengren Pielberg G, Golovko A, Sundström E, Curik I, Lennartsson J, (2008) A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nat Genet 40 (8): 1104-1009.
    • (2008) Nat Genet , vol.40 , Issue.8 , pp. 1104-1009
    • Rosengren Pielberg, G.1    Golovko, A.2    Sundström, E.3    Curik, I.4    Lennartsson, J.5
  • 16
    • 35349010252 scopus 로고    scopus 로고
    • A duplication of FGF3, FGF4, FGF9 and ORAOV1 causes the hair ridge and predisposes to dermoid sinus in Ridgeback dogs
    • Salmon Hillbertz NHC, Isaksson M, Karlsson EK, Hellmén E, Pielberg GR, et al. (2007) A duplication of FGF3, FGF4, FGF9 and ORAOV1 causes the hair ridge and predisposes to dermoid sinus in Ridgeback dogs. Nat Genet 38 (11): 1318-1320.
    • (2007) Nat Genet , vol.38 , Issue.11 , pp. 1318-1320
    • Salmon Hillbertz, N.H.C.1    Isaksson, M.2    Karlsson, E.K.3    Hellmén, E.4    Pielberg, G.R.5
  • 17
    • 67651219230 scopus 로고    scopus 로고
    • Copy number variation in intron 1 of SOX5 causes the pea-comb in chickens
    • doi:10.1371/journal.pgen.1000512
    • Wright D, Boije H, Meadows JR, Bed'hom B, Vieaud A, et al. (2009) Copy number variation in intron 1 of SOX5 causes the pea-comb in chickens. PLoS Genet 5 (6): 1000512 doi:10.1371/journal.pgen.1000512.
    • (2009) PLoS Genet , vol.5 , Issue.6 , pp. 1000512
    • Wright, D.1    Boije, H.2    Meadows, J.R.3    Bed'hom, B.4    Vieaud, A.5
  • 18
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with autism
    • Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, et al. (2007) Strong association of de novo copy number mutations with autism. Science 316: 445-449.
    • (2007) Science , vol.316 , pp. 445-449
    • Sebat, J.1    Lakshmi, B.2    Malhotra, D.3    Troge, J.4    Lese-Martin, C.5
  • 19
    • 0025911718 scopus 로고
    • Elevated plasma levels of hyaluronan in patients with osteoarthritis and rheumatoid arthritis
    • Goldberg RL, Huff JP, Lenz ME, Glickman P, Katz R, et al. (1991) Elevated plasma levels of hyaluronan in patients with osteoarthritis and rheumatoid arthritis. Arthritis Rheum 34: 799-807.
    • (1991) Arthritis Rheum , vol.34 , pp. 799-807
    • Goldberg, R.L.1    Huff, J.P.2    Lenz, M.E.3    Glickman, P.4    Katz, R.5
  • 20
    • 0026333015 scopus 로고
    • Serum concentration of hyaluronan and proteoglycans in joint disease. Lack of association
    • Hedin PJ, Weitoft T, Hedin H, Engström-Laurent A, Saxne T, (1991) Serum concentration of hyaluronan and proteoglycans in joint disease. Lack of association. J Rheumatol 18: 1601-1605.
    • (1991) J Rheumatol , vol.18 , pp. 1601-1605
    • Hedin, P.J.1    Weitoft, T.2    Hedin, H.3    Engström-Laurent, A.4    Saxne, T.5
  • 21
    • 60549092844 scopus 로고    scopus 로고
    • Rheostatic signaling by CD44 and hyaluronan
    • Puré E, Assoian RK, (2009) Rheostatic signaling by CD44 and hyaluronan. Cell Signal 21: 651-655.
    • (2009) Cell Signal , vol.21 , pp. 651-655
    • Puré, E.1    Assoian, R.K.2
  • 23
    • 33746040501 scopus 로고    scopus 로고
    • Hyaluronan fragments: An information-rich system
    • Stern R, Asari AA, Sugahara KN, (2006) Hyaluronan fragments: An information-rich system. Eur J Cell Biol 85 (8): 699-715.
    • (2006) Eur J Cell Biol , vol.85 , Issue.8 , pp. 699-715
    • Stern, R.1    Asari, A.A.2    Sugahara, K.N.3
  • 24
    • 58649089796 scopus 로고    scopus 로고
    • Anti-oxidant inhibition of hyaluronan fragment-induced inflammatory gene expression
    • Eberlein M, Schneiber KA, Black KE, Collins SL, Chan-Li Y, et al. (2008) Anti-oxidant inhibition of hyaluronan fragment-induced inflammatory gene expression. J Inflamm 5: 20.
    • (2008) J Inflamm , vol.5 , pp. 20
    • Eberlein, M.1    Schneiber, K.A.2    Black, K.E.3    Collins, S.L.4    Chan-Li, Y.5
  • 25
    • 67649831360 scopus 로고    scopus 로고
    • NLRP3/Cryopyrin is necessary for Interleukin-1β (IL-β) release in response to hyaluronan, an endogenous trigger in inflammation in response to injury
    • Yamasaki K, Muto J, Taylor KR, Cogen AL, Audish D, et al. (2009) NLRP3/Cryopyrin is necessary for Interleukin-1β (IL-β) release in response to hyaluronan, an endogenous trigger in inflammation in response to injury. J Biol Chem 284 (19): 12762-12771.
    • (2009) J Biol Chem , vol.284 , Issue.19 , pp. 12762-12771
    • Yamasaki, K.1    Muto, J.2    Taylor, K.R.3    Cogen, A.L.4    Audish, D.5
  • 26
    • 77950363011 scopus 로고    scopus 로고
    • Autoinflammatory Disease reloaded: A clinical perspective
    • Kastner DL, Aksentijevich I, Goldbach-Mansky R, (2010) Autoinflammatory Disease reloaded: A clinical perspective. Cell 140: 784-790.
    • (2010) Cell , vol.140 , pp. 784-790
    • Kastner, D.L.1    Aksentijevich, I.2    Goldbach-Mansky, R.3
  • 27
    • 0028223391 scopus 로고
    • A study of the mechanism of action of the mild analgesic dipyrone
    • Shimada SG, Otterness IG, Stitt JT, (1994) A study of the mechanism of action of the mild analgesic dipyrone. Agents Actions 41: 188-192.
    • (1994) Agents Actions , vol.41 , pp. 188-192
    • Shimada, S.G.1    Otterness, I.G.2    Stitt, J.T.3
  • 28
    • 0036164377 scopus 로고    scopus 로고
    • A comparative study of the antipyretic effects of indomethacin and dipyrone in rats
    • deSouza GE, Cardoso RA, Melo MC, Fabricio AS, Silva VM, et al. (2002) A comparative study of the antipyretic effects of indomethacin and dipyrone in rats. Inflamm Res 51 (1): 24-32.
    • (2002) Inflamm Res , vol.51 , Issue.1 , pp. 24-32
    • deSouza, G.E.1    Cardoso, R.A.2    Melo, M.C.3    Fabricio, A.S.4    Silva, V.M.5
  • 29
    • 33748854385 scopus 로고    scopus 로고
    • Antipyretic efficacy and tolerability of oral ibuprofen, oral dipyrone and intramuscular dipyrone in children: a randomized controlled trial
    • Prada J, Daza R, Chumbers O, Loayza I, Huicho L, (2006) Antipyretic efficacy and tolerability of oral ibuprofen, oral dipyrone and intramuscular dipyrone in children: a randomized controlled trial. Sao Paolo Med J 124 (3): 135-140.
    • (2006) Sao Paolo Med J , vol.124 , Issue.3 , pp. 135-140
    • Prada, J.1    Daza, R.2    Chumbers, O.3    Loayza, I.4    Huicho, L.5
  • 31
    • 79953763056 scopus 로고    scopus 로고
    • Angiotensin converting enzyme inhibition blocks interstitial hyaluronan dissipation in the neonatal rat kidney via hyaluronan synthase 2 and hyaluronidase 1
    • Matrix Biol, In press
    • Stridh S, Kerjaschki D, Chen Y, Rugenheimer L, Åstrand ABM, et al. (2010) Angiotensin converting enzyme inhibition blocks interstitial hyaluronan dissipation in the neonatal rat kidney via hyaluronan synthase 2 and hyaluronidase 1. Matrix Biol In press.
    • (2010)
    • Stridh, S.1    Kerjaschki, D.2    Chen, Y.3    Rugenheimer, L.4    Åstrand, A.B.M.5
  • 32
    • 0033250409 scopus 로고    scopus 로고
    • Cutaneous mucinosis and mastocytosis in shar-pei
    • López A, Spracklin D, McConkey S, Hanna P, (1999) Cutaneous mucinosis and mastocytosis in shar-pei. Can Vet J 40: 881-883.
    • (1999) Can Vet J , vol.40 , pp. 881-883
    • López, A.1    Spracklin, D.2    McConkey, S.3    Hanna, P.4
  • 33
    • 0029336528 scopus 로고
    • The occurrence of mast cell tumors in young shar-peis
    • Miller DM, (1995) The occurrence of mast cell tumors in young shar-peis. J Vet Diagn Invest 7: 360-363.
    • (1995) J Vet Diagn Invest , vol.7 , pp. 360-363
    • Miller, D.M.1
  • 34
    • 63449101087 scopus 로고    scopus 로고
    • Involvement of CD44 in mast cell proliferation during terminal differentiation
    • Takano H, Nakazawa S, Shirata N, Tamba S, Furuta K, et al. (2009) Involvement of CD44 in mast cell proliferation during terminal differentiation. Lab Invest 89 (4): 446-55.
    • (2009) Lab Invest , vol.89 , Issue.4 , pp. 446-455
    • Takano, H.1    Nakazawa, S.2    Shirata, N.3    Tamba, S.4    Furuta, K.5
  • 35
    • 72549096829 scopus 로고    scopus 로고
    • Targeting CD44 in mast cell regulation
    • Tanaka S, (2010) Targeting CD44 in mast cell regulation. Expert Opin Ther Targets 14 (1): 31-43.
    • (2010) Expert Opin Ther Targets , vol.14 , Issue.1 , pp. 31-43
    • Tanaka, S.1
  • 36
    • 0033022132 scopus 로고    scopus 로고
    • Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX
    • Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR, (1999) Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc Natl Sci USA 11: 6296-6300.
    • (1999) Proc Natl Sci USA , vol.11 , pp. 6296-6300
    • Triggs-Raine, B.1    Salo, T.J.2    Zhang, H.3    Wicklow, B.A.4    Natowicz, M.R.5
  • 37
    • 28644447707 scopus 로고    scopus 로고
    • Genome sequence, comparative analysis and haplotype structure of the domestic dog
    • Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, et al. (2005) Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature 438: 803-819.
    • (2005) Nature , vol.438 , pp. 803-819
    • Lindblad-Toh, K.1    Wade, C.M.2    Mikkelsen, T.S.3    Karlsson, E.K.4    Jaffe, D.B.5
  • 38
    • 55549097836 scopus 로고    scopus 로고
    • Mapping short DNA sequencing reads and calling variants using mapping quality scores
    • Heng L, Ruan J, Durbin R, (2008) Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res18: 1851-1858.
    • (2008) Genome , vol.Res18 , pp. 1851-1858
    • Heng, L.1    Ruan, J.2    Durbin, R.3
  • 41
    • 0029461958 scopus 로고
    • Short technical report. Modification of the TRIZOL reagent procedure for isolation of RNA from Polysaccharide-and proteoglycan-rich sources
    • Chomczynski P, Mackey K, (1995) Short technical report. Modification of the TRIZOL reagent procedure for isolation of RNA from Polysaccharide-and proteoglycan-rich sources. Biotechniques 19 (6): 942-5.
    • (1995) Biotechniques , vol.19 , Issue.6 , pp. 942-945
    • Chomczynski, P.1    Mackey, K.2


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