An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance

European Journal of Human Genetics

Volumn 18, Issue 6, 2010, Pages 656-661

  Kuechler, Amla ^a   Hauffa, Berthold P ^a   Köninger, Angela ^a   Kleinau, Gunnar ^b   Albrecht, Beate ^a   Horsthemke, Bernhard ^a   Gromoll, Jörg ^c  

^a UNIVERSITY OF DUISBURG ESSEN   (Germany)

^b LEIBNIZ INSTITUT FÜR MOLEKULARE PHARMAKOLOGIE   (Germany)

^c UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Chromosome 2p16.3; FSH receptor deficiency; FSHR mutation; Hypergonadotropic hypogonadism; Translocation

Indexed keywords

FOLLITROPIN RECEPTOR;

ADOLESCENT; ALLELE; AMENORRHEA; ARTICLE; CASE REPORT; CHROMOSOME 2; CONFORMATIONAL TRANSITION; CYTOGENETICS; EXON; FEMALE; GENE DELETION; HETEROZYGOSITY; HORMONE RECEPTOR TRANSLOCATION; HORMONE RESISTANCE; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; KARYOTYPE 46,XX; NUCLEOTIDE SEQUENCE; OVARY FOLLICLE DEVELOPMENT; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; WILD TYPE;

ADOLESCENT; AMENORRHEA; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; FEMALE; FOLLICLE STIMULATING HORMONE; GENES, RECESSIVE; HUMANS; HYPOGONADISM; MODELS, MOLECULAR; MUTATION; RECEPTORS, FSH; TRANSLOCATION, GENETIC;

EID: 77952675737     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.244     Document Type: Article

References (35)

1. Simoni M, Gromoll J, Nieschlag E: The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev 1997; 18: 739-773. (Pubitemid 28009566)
2. Themmen APN, Huhtaniemi IT: Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr Rev 2000; 21: 551-583. Review.
3. Gromoll J, Ried T, Holtgreve-Grez H et al: Localization of the human FSH receptor to chromosome 2 p21 using a genomic probe comprising exon 10. J Mol Endocrinol 1994; 12: 265-271. (Pubitemid 24199696)
4. Gromoll J, Pekel E, Nieschlag E: The structure and organization of the human follicle-stimulating hormone receptor (FSHR) gene. Genomics 1996; 35: 308-311. (Pubitemid 26250316)
5. Aittomäki K, Lucena JL, Pakarinen P et al: Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995; 82: 959-968.
6. Aittomäki K, Herva R, Stenman UH et al: Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metabol 1996; 81: 3722-3726. (Pubitemid 26339945)
7. Beau I, Touraine P, Meduri G et al: A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. J Clin Invest 1998; 102: 1352-1359. (Pubitemid 28467563)
8. Tapanainen JS, Vaskivuo T, Aittomäki K, Huhtaniemi IT: Inactivating FSH receptor mutations and gonadal dysfunction. Mol Cell Endocrinol 1998; 145: 129-135. (Pubitemid 29003187)
9. Touraine P, Beau I, Gougeon A et al: New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Mol Endocrinol 1999; 13: 1844-1854. (Pubitemid 30645258)
10. Doherty E, Pakarinen P, Tiitinen A et al: A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab 2002; 87: 1151-1155. (Pubitemid 36121080)
11. Allen LA, Achermann JC, Pakarinen P et al: A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. Hum Reprod 2003; 18: 251-256. (Pubitemid 36236254)
12. Meduri G, Touraine P, Beau I et al: Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. J Clin Endocrinol Metab 2003; 88: 3491-3498. (Pubitemid 37034482)
13. Nakamura Y, Maekawa R, Yamagata Y et al: A novel mutation in exon 8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea. Gynecol Endocrinol 2008; 24: 708-712.
14. Gromoll J, Simoni M, Nieschlag E: An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab 1996; 81: 1367-1370. (Pubitemid 26118564)
15. Smits G, Olatunbosun O, Delbaere A et al: Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor. N Engl J Med 2003; 349: 760-766. (Pubitemid 37010780)
16. Vasseur C, Rodien P, Beau I et al: A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome. N Engl J Med 2003; 349: 753-759. (Pubitemid 37010779)
17. Montanelli L, Delbaere A, Di Carlo C et al: A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome. J Clin Endocrinol Metab 2004; 89: 1255-1258. (Pubitemid 38368422)
18. De Leener A, Montanelli L, Van Durme J et al: Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. J Clin Endocrinol Metab 2006; 91: 555-562. (Pubitemid 43236926)
19. Meduri G, Bachelot A, Cocca MP et al: Molecular pathology of the FSH receptor: new insights into FSH physiology. Mol Cell Endocrinol 2008; 282: 130-142.
20. Gromoll J, Bröcker M, Derwahl M, Höppner W: Detection of mutation in glycoprotein hormone receptors. Methods 2000; 1: 83-97. (Pubitemid 32896772)
21. Nannya Y, Sanada M, Nakazaki K et al: A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 2005; 65: 6071-6079. (Pubitemid 40994391)
22. Kleinau G, Krause G: Thyrotropin and homologous glycoprotein hormone receptors: structural and functional aspects of extracellular signaling mechanisms. Endocr Rev 2009; 30: 133-151.
23. Voigt M, Fusch C, Olbertz D et al: Analysis of the Neonatal Collective in the Federal Republic of Germany. Geburtshilfe und Frauenheilkunde 2006; 66: 956-970.
24. Reinken L, van Oost G: Physical growth of normal German children from birth to 18 years: longitudinal study of height, weight and height velocity. Klin Pädiatr 1992; 204: 129-133.
25. Nellhaus G: Head circumference from birth to eighteen years. Practical composite international and interracial graphs. Pediatrics 1968; 41: 106-114.
26. Rinchik EM, Bultman SJ, Horsthemke B et al: A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 1993; 361: 72-76. (Pubitemid 23020776)
27. Simoni M, Nieschlag E, Gromoll J: Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Hum Reprod Update 2002; 8: 413-421. (Pubitemid 35175203)
28. Greb R, Grieshaber K, Gromoll J et al: A common single nucleotide polymorphism in exon 10 of the human follicle stimulating hormone receptor is a major determinant of length and hormonal dynamics of the menstrual cycle. J Clin Endocrinol Metab 2005; 90: 4866-4872. (Pubitemid 41159384)
29. Ceruso MA, Weinstein H: Structural mimicry of proline kinks: tertiary packing interactions support local structural distortions. J Mol Biol 2002; 318: 1237-1249. (Pubitemid 34753994)
30. Yohannan S, Faham S, Yang D, Whitelegge JP, Bowie JU: The evolution of transmembrane helix kinks and the structural diversity of G protein-coupled receptors. Proc Natl Acad Sci USA 2004; 101: 959-963. (Pubitemid 38160566)
31. Nygaard R, Frimurer TM, Holst B, Rosenkilde MM, Schwartz TW: Ligand binding and micro-switches in 7TM receptor structures. Trends Pharmacol Sci 2009; 30: 249-259.
32. Altenbach C, Kusnetzow AK, Ernst OP, Hofmann KP, Hubbell WL: High-resolution distance mapping in rhodopsin reveals the pattern of helix movement due to activation. Proc Natl Acad Sci USA 2008; 105: 7439-7444. (Pubitemid 351830036)
33. Scheerer P, Park JH, Hildebrand PW et al: Crystal structure of opsin in its G-protein-interacting conformation. Nature 2008; 455: 497-502. (Pubitemid 351969893)
34. Agretti P, De Marco G, Collecchi P et al: Proper targeting and activity of a nonfunction-ing thyroid-stimulating hormone receptor (TSHr) combining an inactivating and activating TSHr mutation in one receptor. Eur J Biochem 2003; 270: 3839-3847. (Pubitemid 37123256)
35. Fernandez LM, Puett D: Identification of amino acid residues in transmembrane helices VI and VII of the lutropin/choriogonadotropin receptor involved in signaling. Biochemistry 1996; 35: 3986-3993. (Pubitemid 26113454)