Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

Proceedings of the National Academy of Sciences of the United States of America

Volumn 104, Issue 44, 2007, Pages 17447-17452

  Pitteloud, Nelly ^a   Zhang, Chengkang ^b   Pignatelli, Duarte ^c   Li, Jia Da ^b   Raivio, Taneli ^a   Cole, Lindsay W ^a   Plummer, Lacey ^a   Jacobson Dickman, Elka E ^a   Mellon, Pamela L ^d   Zhou, Qun Yong ^b   Crowley Jr , William F ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF PORTO   (Portugal)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Gonadotropin releasing hormone deficiency

Indexed keywords

GONADORELIN; PEPTIDE HORMONE; PROKINETICIN 2; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CELL MIGRATION; CONTROLLED STUDY; EMBRYO; FEMALE; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL;

ANIMALS; BASE SEQUENCE; CELL MOVEMENT; FEMALE; GASTROINTESTINAL HORMONES; GENE DELETION; GENE EXPRESSION REGULATION; GENOTYPE; GONADOTROPIN-RELEASING HORMONE; HUMANS; HYPOGONADISM; KALLMANN SYNDROME; MALE; MICE; MICE, KNOCKOUT; MUTATION; NEURONS; NEUROPEPTIDES; PEDIGREE; PHENOTYPE; REPRODUCTION;

ANIMALIA; MURINAE; MUS;

EID: 36849044530     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0707173104     Document Type: Article

References (28)

1. Kallmann FJ, Schoenfeld WA (1944) Am J Mental Defic 158:203-236.
2. Boyar RM, Wu RH, Kapen S, Hellman L, Weitzman ED, Finkelstein JW (1976) J Clin Endocrinol Metab 43:1268-1275.
3. Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng YZ, et al. (2007) J Clin Invest 117:457-463.
4. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, et al. (1991) Nature 353:529-536.
5. Hardelin JP, Levilliers J, Blanchard S, Carel J-C, Leutenegger M, Pinard-Bertelletto J-P, Bouloux P, Petit C (1993) Hum Mol Genet 2:373-377.
6. Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, et al. (1991) Cell 67:423-435.
7. de Roux N, Genin E, Carel JC, Matsuda F, Chaussain JL, Milgrom E (2003) Proc Natl Acad Sci USA 100:10972-10976.
8. de Roux N, Young J, Misrahi M, Genet R, Chanson P, Schaison G, Milgrom E (1997) N Engl J Med 337:1597-1602.
9. Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, et al. (2003) N Engl J Med 349:1614-1627.
10. Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, et al. (2003) Nat Genet 33:463-465.
11. Pitteloud N, Acierno JS, Jr, Meysing A, Eliseenkova AV, Ma J, Ibrahimi OA, Metzger DL, Hayes FJ, Dwyer AA, Hughes VA, et al. (2006) Proc Natl Acad Sci USA 103:6281-6286.
12. Li M, Bullock CM, Knauer DJ, Ehlert FJ, Zhou QY (2001) Mol Pharmacol 59:692-698.
13. Lin DC, Bullock CM, Ehlert FJ, Chen JL, Tian H, Zhou QY (2002) J Biol Chem 277:19276-19280.
14. Masuda Y, Takatsu Y, Terao Y, Kumano S, Ishibashi Y, Suenaga M, Abe M, Fukusumi S, Watanabe T, Shintani Y, et al. (2002) Biochem Biophys Res Commun 293:396-402.
15. Soga T, Matsumoto S, Oda T, Saito T, Hiyama H, Takasaki J, Kamohara M, Ohishi T, Matsushime H, Furuichi K (2002) Biochim Biophys Acta 1579:173-179.
16. Ng KL, Li JD, Cheng MY, Leslie FM, Lee AG, Zhou QY (2005) Science 308:1923-1927.
17. Dode C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, et al. (2006) PLoS Genet 2:e175.
18. Maquat LE, Carmichael GG (2001) Cell 104:173-176.
19. Bullock CM, Li JD, Zhou QY (2004) Mol Pharmacol 65:582-588.
20. Matsumoto S, Yamazaki C, Masumoto KH, Nagano M, Naito M, Soga T, Hiyama H, Matsumoto M, Takasaki J, Kamohara M, et al. (2006) Proc Natl Acad Sci USA 103:4140-4145.
21. Zhang C, Ng KL, Li JD, He F, Anderson DJ, Sun YE, Zhou QY (2007) J Biol Chem 282:6917-6921.
22. Chen J, Kuei C, Sutton S, Wilson S, Yu J, Kamme F, Mazur C, Lovenberg T, Liu C (2005) Mol Pharmacol 67:2070-2076.
23. Tobet SA, Schwarting GA (2006) Endocrinology 147:1159-1165.
24. Corradi A, Croci L, Broccoli V, Zecchini S, Previtali S, Wurst W, Amadio S, Maggi R, Quattrini A, Consalez GG (2003) Development (Cambridge, UK) 130:401-410.
25. Krieger DT, Perlow MJ, Gibson MJ, Davies TF, Zimmerman EA, Ferin M, Charlton HM (1982) Nature 298:468-471.
26. Cheng MY, Bullock CM, Li C, Lee AG, Bermak JC, Belluzzi J, Weaver DR, Leslie FM, Zhou QY (2002) Nature 417:405-410.
27. Antonarakis SE (1998) Hum Mutat 11:1-3.
28. Schaeren-Wiemers N, Gerfin-Moser A (1993) Histochemistry 100:431-440.