LH receptor gene mutations and polymorphisms: An overview

Molecular and Cellular Endocrinology

Volumn 260-262, Issue , 2007, Pages 282-286

  Piersma, Djura ^a   Verhoef Post, Miriam ^a   Berns, Els M J J ^a   Themmen, Axel P N ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Breast cancer; Disorders of sexual differentiation; LH receptor; Mutation; Polymorphism

Indexed keywords

LUTEINIZING HORMONE RECEPTOR;

BREAST CANCER; DNA POLYMORPHISM; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; HETEROZYGOTE; HOMOZYGOSITY; HORMONE SYNTHESIS; HUMAN; MOLECULAR CLONING; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEX DIFFERENTIATION DISORDER; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE;

ALLELES; HUMANS; KAPLAN-MEIERS ESTIMATE; MUTANT PROTEINS; MUTATION; POLYMORPHISM, GENETIC; RECEPTORS, LH;

EID: 33751234526     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mce.2005.11.048     Document Type: Review

References (39)

1. Ascoli M., Fanelli F., and Segaloff D.L. The lutropin/choriogonadotropin receptor, a 2002 perspective. Endocr. Rev. 23 (2002) 141-174
2. Bhowmick N., Huang J., Puett D., Isaacs N.W., and Lapthorn A.J. Determination of residues important in hormone binding to the extracellular domain of the luteinizing hormone/chorionic gonadotropin receptor by site-directed mutagenesis and modeling. Mol. Endocrinol. 10 (1996) 1147-1159
3. Canto P., Soderlund D., Ramon G., Nishimura E., and Mendez J.P. Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors. Am. J. Med. Genet. 108 (2002) 148-152
4. Clemons M., and Goss P. Estrogen and the risk of breast cancer. N. Engl. J. Med. 344 (2001) 276-285
5. Fan Q.R., and Hendrickson W.A. Structure of human follicle-stimulating hormone in complex with its receptor. Nature 433 (2005) 269-277
6. Foord S.M., Bonner T.I., Neubig R.R., Rosser E.M., Pin J.P., Davenport A.P., Spedding M., and Harmar A.J. International union of pharmacology. XLVI. G protein-coupled receptor list. Pharmacol. Rev. 57 (2005) 279-288
7. Gromoll J., Gudermann T., Greshniok A., Nieschlag E., and Seif F.J. Male pseudohermaphroditism due to an inactivating mutation in the extracellular domain of the luteinizing hormone receptor. Exp. Clinic. Endocrin. Diab. 107 Suppl. 1 (1999) 10 v005
8. Huhtaniemi I.T., and Themmen A.P. Mutations in human gonadotropin and gonadotropin-receptor genes. Endocrine 26 (2005) 207-218
9. Kremer H., Mariman E., Otten B.J., Moll Jr. G.W., Stoelinga G.B., Wit J.M., Jansen M., Drop S.L., Faas B., Ropers H.H., and Brunner H.G. Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Hum. Mol. Genet. 2 (1993) 1779-1783
10. Kremer H., Kraaij R., Toledo S.P., Post M., Fridman J.B., Hayashida C.Y., van Reen M., Milgrom E., Ropers H.H., Mariman E., Themmen A.P.N., and Brunner H.G. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat. Genet. 9 (1995) 160-164
11. Latronico A.C., Anasti J., Arnhold I.J., Rapaport R., Mendonca B.B., Bloise W., Castro M., Tsigos C., and Chrousos G.P. Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. N. Engl. J. Med. 334 (1996) 507-512
12. Laue L., Chan W.Y., Hsueh A.J., Kudo M., Hsu S.Y., Wu S.M., Blomberg L., and Cutler Jr. G.B. Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc. Natl. Acad. Sci. U.S.A. 92 (1995) 1906-1910
13. Laue L.L., Wu S.M., Kudo M., Bourdony C.J., Cutler Jr. G.B., Hsueh A.J., and Chan W.Y. Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia. Mol. Endocrinol. 10 (1996) 987-997
14. Lei Z.M., Mishra S., Zou W., Xu B., Foltz M., Li X., and Rao C.V. Targeted disruption of luteinizing hormone/human chorionic gonadotropin receptor gene. Mol. Endocrinol. 15 (2001) 184-200
15. Liu G., Duranteau L., Carel J.C., Monroe J., Doyle D.A., and Shenker A. Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. N. Engl. J. Med. 341 (1999) 1731-1736
16. Loosfelt H., Misrahi M., Atger M., Salesse R., Vu Hai-Luu Thi M.T., Jolivet A., Guiochon-Mantel A., Sar S., Jallal B., Garnier J., et al. Cloning and sequencing of porcine LH-hCG receptor cDNA: variants lacking transmembrane domain. Science 245 (1989) 525-528
17. Martens J.W., Verhoef-Post M., Abelin N., Ezabella M., Toledo S.P., Brunner H.G., and Themmen A.P. A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. Mol. Endocrinol. 12 (1998) 775-784
18. Martens J.W., Lumbroso S., Verhoef-Post M., Georget V., Richter-Unruh A., Szarras-Czapnik M., Romer T.E., Brunner H.G., Themmen A.P., and Sultan C. Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency. J. Clin. Endocrinol. Metab. 87 (2002) 2506-2513
19. McFarland K.C., Sprengel R., Phillips H.S., Kohler M., Rosemblit N., Nikolics K., Segaloff D.L., and Seeburg P.H. Lutropin-choriogonadotropin receptor: an unusual member of the G protein-coupled receptor family. Science 245 (1989) 494-499
20. Minegishi T., Nakamura K., Takakura Y., Miyamoto K., Hasegawa Y., Ibuki Y., and Igarashi M. Cloning and sequencing of human LH/hCG receptor cDNA. Biochem. Biophys. Res. Commun. 172 (1990) 1049-1054
21. Mitrunen K., and Hirvonen A. Molecular epidemiology of sporadic breast cancer. The role of polymorphic genes involved in oestrogen biosynthesis and metabolism. Mutat. Res. 544 (2003) 9-41
22. Muller J., Gondos B., Kosugi S., Mori T., and Shenker A. Severe testotoxicosis phenotype associated with Asp578 → Tyr mutation of the lutrophin/choriogonadotrophin receptor gene. J. Med. Genet. 35 (1998) 340-341
23. Muller T., Gromoll J., and Simoni M. Absence of exon 10 of the human luteinizing hormone (LH) receptor impairs LH, but not human chorionic gonadotropin action. J. Clin. Endocrinol. Metab. 88 (2003) 2242-2249
24. Powell B.L., Piersma D., Kevenaar M.E., van Staveren I.L., Themmen A.P., Iacopetta B.J., and Berns E.M. Luteinizing hormone signaling and breast cancer: polymorphisms and age of onset. J. Clin. Endocrinol. Metab. 88 (2003) 1653-1657
25. Reiter E.O., Brown R.S., Longcope C., and Beitins I.Z. Male-limited familial precocious puberty in three generations. Apparent Leydig-cell autonomy and elevated glycoprotein hormone alpha subunit. N. Engl. J. Med. 311 (1984) 515-519
26. Richter-Unruh A., Wessels H.T., Menken U., Bergmann M., Schmittmann-Ohters K., Schaper J., Tappeser S., and Hauffa B.P. Male LH-independent sexual precocity in a 3.5-year-old boy caused by a somatic activating mutation of the LH receptor in a Leydig cell tumor. J. Clin. Endocrinol. Metab. 87 (2002) 1052-1056
27. Richter-Unruh A., Martens J.W., Verhoef-Post M., Wessels H.T., Kors W.A., Sinnecker G.H., Boehmer A., Drop S.L., Toledo S.P., Brunner H.G., and Themmen A.P. Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. Clin. Endocrinol. (Oxf.) 56 (2002) 103-112
28. Richter-Unruh A., Verhoef-Post M., Malak S., Homoki J., Hauffa B.P., and Themmen A.P. Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain. J. Clin. Endocrinol. Metab. 89 (2004) 5161-5167
29. Rodien P., Cetani F., Costagliola S., Tonacchera M., Duprez L., Minegishi T., Govaerts C., and Vassart G. Evidences for an allelic variant of the human LC/CG receptor rather than a gene duplication: functional comparison of wild-type and variant receptors. J. Clin. Endocrinol. Metab. 83 (1998) 4431-4434
30. Rosenthal S.M., Grumbach M.M., and Kaplan S.L. Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis): effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases. J. Clin. Endocrinol. Metab. 57 (1983) 571-579
31. Rosenthal I.M., Refetoff S., Rich B., Barnes R.B., Sunthornthepvarakul T., Parma J., and Rosenfield R.L. Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor-a clinical research center study. J. Clin. Endocrinol. Metab. 81 (1996) 3802-3806
32. Shenker A., Laue L., Kosugi S., Merendino Jr. J.J., Minegishi T., and Cutler Jr. G.B. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty (see comments). Nature 365 (1993) 652-654
33. Themmen A.P.N., and Huhtaniemi I. Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr. Rev. 21 (2000) 551-583
34. Themmen A.P. An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms. Reproduction 130 (2005) 263-274
35. Toledo S.P., Brunner H.G., Kraaij R., Post M., Dahia P.L., Hayashida C.Y., Kremer H.T., and Themmen A.P. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. J. Clin. Endocrinol. Metab. 81 (1996) 3850-3854
36. Wu S.M., Hallermeier K.M., Laue L., Brain C., Berry A.C., Grant D.B., Griffin J.E., Wilson J.D., Cutler Jr. G.B., and Chan W.Y. Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia. Mol. Endocrinol. 12 (1998) 1651-1660
37. Wu S.M., Leschek E.W., Brain C., and Chan W.Y. A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: effect of the size of a critical amino acid on receptor activity. Mol. Genet. Metab. 66 (1999) 68-73
38. Yano K., Kohn L.D., Saji M., Kataoka N., Okuno A., and Cutler Jr. G.B. A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene. Biochem. Biophys. Res. Commun. 220 (1996) 1036-1042
39. Zhang F.P., Poutanen M., Wilbertz J., and Huhtaniemi I. Normal prenatal but arrested postnatal sexual development of luteinizing hormone receptor knockout (LuRKO) mice. Mol. Endocrinol. 15 (2001) 172-183