Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Human Mutation

Volumn 33, Issue 8, 2012, Pages 1175-1181

  Diggle, Christine P ^a   Parry, David A ^a   Logan, Clare V ^a   Laissue, Paul ^b,c   Rivera, Carolina ^b   Restrepo, Carlos Martín ^b,c   Fonseca, Dora J ^b,c   Morgan, Joanne E ^a   Allanore, Yannick ^d   Fontenay, Michaela ^e   Wipff, Julien ^d   Varret, Mathilde ^f   Gibault, Laure ^d,g   Dalantaeva, Nadezhda ^h,i   Korbonits, Márta ^h   Zhou, Bowen ^j   Yuan, Gang ^k   Harifi, Ghita ^l   Cefle, Kivanc ^m   Palanduz, Sukru ^m   Akoglu, Hadim ⁿ   Zwijnenburg, Petra J ^o   Lichtenbelt, Klaske D ^p   Aubry Rozier, Bérengère ^q   Superti Furga, Andrea ^r   Dallapiccola, Bruno ^s   Accadia, Maria ^t   Brancati, Francesco ^u,v,w   Sheridan, Eamonn G ^a   Taylor, Graham R ^a   Carr, Ian M ^a   Johnson, Colin A ^a   Markham, Alexander F ^a   Bonthron, David T ^a   more..

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b UNIVERSIDAD DEL ROSARIO   (Colombia)

^c Genética Molecular de Colombia Ltda   (Colombia)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e CNRS   (France)

^f BICHAT HOSPITAL   (France)

^g Hôpital Cochin ^*  (France)

^h QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

ⁱ N N BLOKHIN NATIONAL MEDICAL RESEARCH CENTER OF ONCOLOGY   (Russian Federation)

^j JIANGHAN UNIVERSITY   (China)

^k HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^l Center Hospital University Mohammed VI   (Morocco)

^m ISTANBUL UNIVERSITY   (Turkey)

ⁿ ANKARA TRAINING AND RESEARCH HOSPITAL   (Turkey)

^o VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^p UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^q LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^r UNIVERSITY OF LAUSANNE   (Switzerland)

^s BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^t VITO FAZZI HOSPITAL   (Italy)

^u UNIVERSITY OF CHIETI   (Italy)

^v CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^w UNIVERSITY OF ROME TOR VERGATA   (Italy)

more..

Author keywords

Genetics; Myelofibrosis; Osteoarthropathy; Prostaglandin; SLC02A1

Indexed keywords

15 HYDROXYPROSTAGLANDIN DEHYDROGENASE; CARRIER PROTEIN; PROSTAGLANDIN E RECEPTOR 1; PROSTAGLANDIN E RECEPTOR 2; PROSTAGLANDIN E RECEPTOR 3; PROSTAGLANDIN E RECEPTOR 4; PROSTAGLANDIN E2; SLCO2A1 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; ETHNICITY; EXOME; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; MISSENSE MUTATION; MYELOFIBROSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOARTHROPATHY; PACHYDERMOPERIOSTOSIS; POPULATION GENETICS; PRIORITY JOURNAL; PROSTAGLANDIN METABOLISM; SCHOOL CHILD; STOP CODON;

ADOLESCENT; ADULT; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; ORGANIC ANION TRANSPORTERS; OSTEOARTHROPATHY, PRIMARY HYPERTROPHIC; PRIMARY MYELOFIBROSIS; PROSTAGLANDINS; YOUNG ADULT;

EID: 84863859795     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22111     Document Type: Article

References (28)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.
2. Akoglu H, Akoglu G, Yuksel C, Dede F, Yenigun EC, Ozturk R, Gonul II, Erekul S, Odabas AR. 2009. Pachydermoperiostosis with myelofibrosis and renal amyloid A amyloidosis. J Clin Rheumatol 15:414-416.
3. Albers CA, Lunter G, Macarthur DG, McVean G, Ouwehand WH, Durbin R. 2011. Dindel: accurate indel calls from short-read data. Genome Res 21:961-973.
4. Castori M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B. 2005. Pachydermoperiostosis: an update. Clin Genet 68:477-486.
5. Cattral MS, Altraif I, Greig PD, Blendis L, Levy GA. 1994. Toxic effects of intravenous and oral prostaglandin E therapy in patients with liver disease. Am J Med 97:369-373.
6. Chan BS, Satriano JA, Schuster VL. 1999. Mapping the substrate binding site of the prostaglandin transporter PGT by cysteine scanning mutagenesis. J Biol Chem 274:25564-25570.
7. Chang HY, Locker J, Lu R, Schuster VL. 2010. Failure of postnatal ductus arteriosus closure in prostaglandin transporter-deficient mice. Circulation 121:529-536.
8. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, et al. 2011. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491-498.
9. Diggle CP, Carr IM, Zitt E, Wusik K, Hopkin RJ, Prada CE, Calabrese O, Rittinger O, Punaro MG, Markham AF, Bonthron DT. 2010. Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. Rheumatology 49:1056-1062.
10. Ferreira SH, Vane JR. 1967. Prostaglandins: their disappearance from and release into the circulation. Nature 216:868-873.
11. Fontenay-Roupie M, Dupuy E, Berrou E, Tobelem G, Bryckaert M. 1995. Increased proliferation of bone marrow-derived fibroblasts in primitive hypertrophic osteoarthropathy with severe myelofibrosis. Blood 85:3229-3238.
12. Gentile P, Byer D, Pelus LM. 1983. In vivo modulation of murine myelopoiesis following intravenous administration of prostaglandin E2. Blood 62:1100-1107.
13. Goessling W, North TE, Loewer S, Lord AM, Lee S, Stoick-Cooper CL, Weidinger G, Puder M, Daley GQ, Moon RT, Zon LI. 2009. Genetic interaction of and Wnt signaling regulates developmental specification of stem cells and regeneration. Cell 136:1136-1147.
14. Kanai N, Lu R, Satriano JA, Bao Y, Wolkoff AW, Schuster VL. 1995. Identification and characterization of a prostaglandin transporter. Science 268:866-869.
15. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R. 2009. The sequence alignment/map format and SAMtools. Bioinformatics 25:2078-2079.
16. Lu R, Schuster VL. 1998. Molecular cloning of the gene for the human prostaglandin transporter hPGT: gene organization, promoter activity, and chromosomal localization. Biochem Biophys Res Commun 246:805-812.
17. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. 2010. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297-1303.
18. Nomura T, Lu R, Pucci ML, Schuster VL. 2004. The two-step model of prostaglandin signal termination: in vitro reconstitution with the prostaglandin transporter and prostaglandin 15 dehydrogenase. Mol Pharmacol 65:973-978.
19. Nomura T, Chang HY, Lu R, Hankin J, Murphy RC, Schuster VL. 2005. Prostaglandin signaling in the renal collecting duct: release, reuptake, and oxidation in the same cell. J Biol Chem 280:28424-28429.
20. North TE, Goessling W, Walkley CR, Lengerke C, Kopani KR, Lord AM, Weber GJ, Bowman TV, Jang IH, Grosser T, Fitzgerald GA, Daley GQ, Orkin SH, Zon LI. 2007. Prostaglandin E2 regulates vertebrate haematopoietic stem cell homeostasis. Nature 447:1007-1011.
21. Pelus LM, Hoggatt J. 2011. Pleiotropic effects of prostaglandins E2 in hematopoiesis: prostaglandin E2 and other eicosanoids regulate hematopoietic stern and progenitor cell function. Prostaglandins Other Lipid Mediat 96:3-9.
22. Scheller M, Huelsken J, Rosenbauer F, Taketo MM, Birchmeier W, Tenen DG, Leutz A. 2006. Hematopoietic stem cell and multilineage defects generated by constitutive beta-catenin activation. Nat Immunol 7:1037-1047.
23. Seifert W, Kühnisch J, Tüysüz B, Specker C, Brouwers A, Horn D. 2012. Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. Hum Mutat 33:660-664.
24. Thiele J, Kvasnicka HM. 2007. Myelofibrosis-what's in a name? Consensus on definition and EUMNET grading. Pathobiology 74:89-96.
25. Ueda K, Saito A, Nakano H, Aoshima M, Yokota M, Muraoka R, Iwaya T. 1980. Cortical hyperostosis following long-term administration of prostaglandin E1 in infants with cyanotic congenital heart disease. J Pediatr 97:834-836.
26. Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bieleńska A, Phillips SE, Markham AF, Bennett CP, Bonthron DT. 2008. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet 40:789-793.
27. West S. 1897. Two cases of clubbing of the fingers developing within a fortnight and four weeks, respectively, with remarks. Trans Clin Soc London 30:60-64.
28. Zhang Z, Xia W, He J, Zhang Z, Ke Y, Yue H, Wang C, Zhang H, Gu J, Hu W, Fu W, Hu Y, Li M, Liu Y. 2012. Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet 90:125-132.