T222P mutation of the insulin-like 3 hormone receptor LGR8 is associated with testicular maldescent and hinders receptor expression on the cell surface membrane

American Journal of Physiology - Endocrinology and Metabolism

Volumn 292, Issue 1, 2007, Pages

  Bogatcheva, Natalia V ^a   Ferlin, Alberto ^b   Feng, Shu ^a   Truong, Anne ^a   Gianesello, Lisa ^b   Foresta, Carlo ^b   Agoulnik, Alexander I ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

Cryptorchidism; G protein coupled receptor; Insulin like 3

Indexed keywords

AMINO ACID; CYCLIC AMP; G PROTEIN COUPLED RECEPTOR;

ADULT; ALLELE; ARTICLE; CELL MEMBRANE; CELL SURFACE; CONTROLLED STUDY; CRYPTORCHISM; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; ANTIGENS, SURFACE; CELLS, CULTURED; CRYPTORCHIDISM; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, G-PROTEIN-COUPLED; TISSUE DISTRIBUTION; TRANSFECTION;

EID: 33846018526     PISSN: 01931849     EISSN: 15221555     Source Type: Journal    
DOI: 10.1152/ajpendo.00228.2006     Document Type: Article

References (27)

1. Alberti L, Proverbio MC, Costagliola S, Romoli R, Boldrighini B, Vigone MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 87: 2549-2555, 2002.
2. Anand-Ivell RJ, Relan V, Balvers M, Coiffec-Dorval I, Fritsch M, Bathgate RA, Ivell R. Expression of the insulin-like peptide 3 (INSL3) hormone-receptor (LGR8) system in the testis. Biol Reprod 74: 945-953, 2006.
3. Bogatcheva NV, Agoulnik AI. INSL3/LGR8 role in testicular descent and cryptorchidism. Reprod Biomed Online 10: 49-54, 2005.
4. Bullesbach EE, Schwabe C. The trap-like relaxin-binding site of the leucine-rich G-protein-coupled receptor 7. J Biol Chem 280: 14051-14056, 2005.
5. Fass D, Blacklow S, Kim PS, Berger JM. Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module. Nature 388: 691-693, 1997.
6. Feng S, Cortessis VK, Hwang A, Hardy B, Koh CJ, Bogatcheva NV, Agoulnik AI. Mutation analysis of INSL3 and GREAT/LGR8 genes in familial cryptorchidism. Urology 64: 1032-1036, 2004.
7. Ferlin A, Simonato M, Bartoloni L, Rizzo G, Bettella A, Dottorini T, Dallapiccola B, Foresta C. The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. J Clin Endocrinol Metab 88: 4273-4279, 2003.
8. Foresta C, Garolla A, Bartoloni L, Bettella A, Ferlin A. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab 90: 152-156, 2005.
9. Gorlov IP, Kamat A, Bogatcheva NV, Jones E, Lamb DJ, Truong A, Bishop CE, McElreavey K, Agoulnik AI. Mutations of the GREAT gene cause cryptorchidism. Hum Mol Genet 11: 2309-2318, 2002.
10. Halls ML, Bond CP, Sudo S, Kumagai J, Ferraro T, Layfield S, Bathgate RA, Summers RJ. Multiple binding sites revealed by interaction of relaxin family peptides with native and chimeric relaxin family peptide receptors 1 and 2 (LGR7 and LGR8). J Pharmacol Exp Therapeut 313: 677-687, 2005.
11. Hobbs HH, Russell DW, Brown MS, Goldstein JL. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Ann Rev Genet 24: 133-170, 1990.
12. Hsu SY, Nakabayashi K, Nishi S, Kumagai J, Kudo M, Sherwood OD, Hsueh AJ. Activation of orphan receptors by the hormone relaxin. Science 295: 671-674, 2002.
13. Jaquette J, Segaloff DL. Temperature sensitivity of some mutants of the lutropin/choriogonadotropin receptor. Endocrinology 138: 85-91, 1997.
14. Kajava AV, Kobe B. Assessment of the ability to model proteins with leucine-rich repeats in light of the latest structural information. Protein Sci 11: 1082-1090, 2002.
15. Kumagai J, Hsu SY, Matsumi H, Roh JS, Fu P, Wade JD, Bathgate RA, Hsueh AJ. INSL3/Leydig insulin-like peptide activates the LGR8 receptor important in testis descent. J Biol Chem 277: 31283-31286, 2002.
16. Matharu AL, Mundell SJ, Benovic JL, Kelly E. Rapid agonist-induced desensitization and internalization of the A(2B) adenosine receptor is mediated by a serine residue close to the COOH terminus. J Biol Chem 276: 30199-30207, 2001.
17. Muda M, He C, Martini PG, Ferraro T, Layfield S, Taylor D, Chevrier C, Schweickhardt R, Kelton C, Ryan PL, Bathgate RA. Splice variants of the relaxin and INSL3 receptors reveal unanticipated molecular complexity. Mol Hum Reprod 11: 591-600, 2005.
18. Nef S, Parada LF. Cryptorchidism in mice mutant for Insl3. Nat Genet 22: 295-299, 1999.
19. Overbeek PA, Gorlov IP, Sutherland RW, Houston JB, Harrison WR, Boettger-Tong HL, Bishop CE, Agoulnik AI. A transgenic insertion causing cryptorchidism in mice. Genesis 30: 26-35, 2001.
20. Rannikko A, Pakarinen P, Manna PR, Beau I, Misrahi M, Aittomaki K, Huhtaniemi I. Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation. Mol Hum Reprod 8: 311-317, 2002.
21. Shin DM, Zhao XS, Zeng W, Mozhayeva M, Muallem S. The mammalian Sec6/8 complex interacts with Ca(2+) signaling complexes and regulates their activity. J Cell Biol 150: 1101-1112, 2000.
22. Song YS, Ji I, Beauchamp J, Isaacs NW, Ji TH. Hormone interactions to Leu-rich repeats in the gonadotropin receptors. II. Analysis of Leu-rich repeat 4 of human luteinizing hormone/chorionic gonadotropin receptor. J Biol Chem 276: 3436-3442, 2001.
23. Sudo S, Kumagai J, Nishi S, Layfield S, Ferraro T, Bathgate R, Hsueh AJ. H3 relaxin is a specific ligand for LGR7 and activates the receptor by interacting with both the ectodomain and the exoloop 2. J Biol Chem 278: 7855-7862, 2003.
24. Sung CH, Schneider BG, Agarwal N, Papermaster DS, Nathans J. Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 88: 8840-8844, 1991.
25. Tonacchera M, Perri A, De Marco G, Agretti P, Banco ME, Di Cosmo C, Grasso L, Vitti P, Chiovato L, Pinchera A. Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 89: 5787-5793, 2005.
26. Yan Y, Cai J, Fu P, Layfield S, Ferraro T, Kumagai J, Sudo S, Tang JG, Giannakis E, Tregear GW, Wade JD, Bathgate RA. Studies on soluble ectodomain proteins of relaxin (LGR7) and insulin 3 (LGR8) receptors. Ann NY Acad Sci 1041: 35-39, 2005.
27. Zimmermann S, Steding G, Emmen JM, Brinkmann AO, Nayernia K, Holstein AF, Engel W, Adham IM. Targeted disruption of the Insl3 gene causes bilateral cryptorchidism. Mol Endocrinol 13: 681-691, 1999.