Mutant prolactin receptor and familial hyperprolactinemia

New England Journal of Medicine

Volumn 369, Issue 21, 2013, Pages 2012-2020

  Newey, Paul J ^a   Gorvin, Caroline M ^a   Cleland, Stephen J ^d   Willberg, Christian B ^b   Bridge, Marcus ^c   Azharuddin, Mohammed ^d   Drummond, Russell S ^d   Van Der Merwe, P Anton ^c   Klenerman, Paul ^b   Bountra, Chas ^a   Thakker, Rajesh V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d GLASGOW ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2; PROLACTIN; PROLACTIN RECEPTOR; STAT5 PROTEIN;

ARTICLE; BINDING AFFINITY; BINDING SITE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE ASSOCIATION; FAMILY HISTORY; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; HYPERPROLACTINEMIA; LIGAND BINDING; LOSS OF FUNCTION MUTATION; MEDICAL HISTORY; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NONHUMAN; OUTCOME ASSESSMENT; PATIENT ASSESSMENT; PRIORITY JOURNAL; PROLACTIN GENE; PROLACTIN RECEPTOR GENE; PROTEIN DETERMINATION; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; YOUNG ADULT;

EID: 84889808041     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1307557     Document Type: Article

References (25)

1. Ben-Jonathan N, LaPensee CR, LaPensee EW. What can we learn from rodents about prolactin in humans? Endocr Rev 2008;29:1-41.
2. Melmed S, Casanueva FF, Hoffman AR, et al. Diagnosis and treatment of hyperprolactinemia: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2011;96:273-88.
3. Klibanski A. Prolactinomas. N Engl J Med 2010;362:1219-26. [Erratum, N Engl J Med 2010;362:2142.]
4. Melmed S. Pathogenesis of pituitary tumors. Nat Rev Endocrinol 2011;7:257-66.
5. Famini P, Maya MM, Melmed S. Pituitary magnetic resonance imaging for sellar and parasellar masses: ten-year experience in 2598 patients. J Clin Endocrinol Metab 2011;96:1633-41.
6. Souter I, Baltagi LM, Toth TL, Petrozza JC. Prevalence of hyperprolactinemia and abnormal magnetic resonance imaging findings in a population with infertility. Fertil Steril 2010;94:1159-62.
7. Jakobovitz-Picard O, Olchovsky D, Berezin M, et al. Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia. Hum Mutat 2000;16:269.
8. David A, Hwa V, Metherell LA, et al. Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev 2011;32:472-97.
9. Levine MA. Pseudohypoparathyroidism: from bedside to bench and back. J Bone Miner Res 1999;14:1255-60.
10. Schuff KG, Hentges ST, Kelly MA, et al. Lack of prolactin receptor signaling in mice results in lactotroph proliferation and prolactinomas by dopamine-dependent and -independent mechanisms. J Clin Invest 2002;110:973-81.
11. van Agthoven J, Zhang C, Tallet E, et al. Structural characterization of the stem-stem dimerization interface between prolactin receptor chains complexed with the natural hormone. J Mol Biol 2010;404:112-26.
12. Broutin I, Jomain JB, Tallet E, et al. Crystal structure of an affinity-matured prolactin complexed to its dimerized receptor reveals the topology of hormone binding site 2. J Biol Chem 2010;285:8422-33.
13. Kulkarni MV, Tettamanzi MC, Murphy JW, et al. Two independent histidines, one in human prolactin and one in its receptor, are critical for pH-dependent receptor recognition and activation. J Biol Chem 2010;285:38524-33.
14. Brooks CL. Molecular mechanisms of prolactin and its receptor. Endocr Rev 2012;33:504-25.
15. O'Shea JJ, Holland SM, Staudt LM. JAKs and STATs in immunity, immunodeficiency, and cancer. N Engl J Med 2013;368:161-70.
16. Fang F, Antico G, Zheng J, Clevenger CV. Quantification of PRL/Stat5 signaling with a novel pGL4-CISH reporter. BMC Biotechnol 2008;8:11.
17. Thakker RV, Newey PJ, Walls GV, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 2012;97:2990-3011.
18. Rao GV, Brooks CL. Functional epitopes for site 1 of human prolactin. Biochemistry 2011;50:1347-58.
19. Dagil R, Knudsen MJ, Olsen JG, et al. The WSXWS motif in cytokine receptors is a molecular switch involved in receptor activation: insight from structures of the prolactin receptor. Structure 2012;20:270-82.
20. Bogorad RL, Courtillot C, Mestayer C, et al. Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors. Proc Natl Acad Sci U S A 2008;105:14533-8.
21. Horseman ND, Zhao W, Montecino-Rodriguez E, et al. Defective mammopoiesis, but normal hematopoiesis, in mice with a targeted disruption of the prolactin gene. EMBO J 1997;16:6926-35.
22. Bouchard B, Ormandy CJ, Di Santo JP, Kelly PA. Immune system development and function in prolactin receptor-deficient mice. J Immunol 1999;163:576-82.
23. Ormandy CJ, Camus A, Barra J, et al. Null mutation of the prolactin receptor gene produces multiple reproductive defects in the mouse. Genes Dev 1997;11:167-78.
24. Binart N, Bachelot A, Bouilly J. Impact of prolactin receptor isoforms on reproduction. Trends Endocrinol Metab 2010;21:362-8.
25. Li W, Ma N, Laird SM, Ledger WL, Li TC. The relationship between serum prolactin concentration and pregnancy outcome in women with unexplained recurrent miscarriage. J Obstet Gynaecol 2013;33:285-8.