The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 9, 2003, Pages 4273-4279

  Ferlin, Alberto ^a   Simonato, Mauro ^a   Bartoloni, Lucia ^a   Rizzo, Giorgia ^a   Bettella, Andrea ^a   Dottorini, Tania ^b   Dallapiccola, Bruno ^b   Foresta, Carlo ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH FACTOR; INSULIN LIKE GROWTH FACTOR 3; LEUCINE RICH REPEAT CONTAINING G PROTEIN COUPLED RECEPTOR 8; RECEPTOR PROTEIN; SOMATOMEDIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AZOOSPERMIA; COHORT ANALYSIS; CONTROLLED STUDY; CRYPTORCHISM; CYTODIAGNOSIS; EJACULATION; EMBRYO DEVELOPMENT; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC EPISTASIS; HORMONE DETERMINATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; PATIENT CODING; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SCROTUM; SPERMATOCYTE; SPERMATOZOON MATURATION; TESTIS DESCENT; TESTOSTERONE METABOLISM;

ADULT; AMINO ACID SUBSTITUTION; CRYPTORCHIDISM; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; HAPLOTYPES; HUMANS; INSULIN; INTRONS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; OLIGOSPERMIA; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEINS; RECEPTORS, G-PROTEIN-COUPLED; RECEPTORS, PEPTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SPERM COUNT;

ANIMALIA;

EID: 0141676009     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030359     Document Type: Article

References (44)

1. Hutson JM, Hasthorpe S, Heyns CF 1997 Anatomical and functional aspects of testicular descent and cryptorchidism. Endocr Rev 18:259-280
2. Nef S, Parada LF 2000 Hormones in male sexual development. Genes Dev 14:3075-3086
3. Emmen JM, McLuskey A, Adham IM, Engel W, Grootegoed JA, Brinkmann AO 2000 Hormonal control of gubernaculum development during testis descent: gubernaculum outgrowth in vitro requires both insulin-like factor and androgens. Endocrinology 141:4720-4727
4. Kubota Y, Temelcos C, Bathgate RA, Smith KJ, Scott D, Zhao C, Hutson JM 2002 The role of insulin 3, testosterone, Mullerian inhibiting substance and relaxin in rat gubernacular growth. Mol Hum Reprod 8:900-905
5. Buyse M, Feingold M 1979 Syndromes associated with abnormal external genitalia. In: Vallet HL, Porter IH, eds. Genetic mechanisms of sexual development. New York: Academic Press; 425-435
6. Foresta C, Ferlin A, Garolla A, Milani C, Oliva G, Rossato M 1996 Functional and cytological features of the contralateral testis in cryptorchidism. Fertil Steril 66:624-629
7. Giwercman A, van der Maase H, Skakkebaek NE 1993 Epidemiological and clinical aspects of carcinoma in situ of the testis. Eur Urol 23:104-114
8. Czeizel A, Erodi E, Toth J 1981 Genetics of undescended testis. J Urol 126: 528-529
9. Koskimies P, Virtanen H, Lindstrom M, Kaleva M, Poutanen M, Huhtaniemi I, Toppari J 2000 A common polymorphism in the human relaxin-like factor (RLF) gene: no relationship with cryptorchidism. Pediatr Res 47:538-541
10. Nef S, Parada LF 1999 Cryptorchidism in mice mutant for Insl3. Nat Genet 22:295-299
11. Zimmermamm S, Steding G, Emmen JM, Brinkmann AO, Nayernia K, Holstein AF, Engel W, Adham IM 1999 Targeted disruption of the Insl3 gene causes bilateral cryptorchidism. Mol Endocrinol 13:681-691
12. Roche PJ, Butkus A, Wintour EM, Tregear G 1996 Structure and expression of Leydig insulin-like peptide mRNA in the sheep. Mol Cell Endocrinol 121: 171-177
13. Zimmermann S, Schottler P, Engel W, Adam IM 1997 Mouse Leydig insulin-like (Ley I-L) gene: structure and expression during testis and ovary development. Mol Reprod Dev 47:30-38
14. Hsu SY, Nakabayashi K, Nishi S, Kumagai J, Kudo M, Sherwood OD, Hsueh AJ 2002 Activation of orphan receptors by the hormone relaxin. Science 295: 671-674
15. Overbeek PA, Gorlov IP, Sutherland RW, Houston JB, Harrison WR, Boettger-Tong HL, Bishop CE, Agulnik AI 2001 A transgenic insertion causing cryptorchidism in mice. Genesis 30:26-35
16. Gorlov IP, Kamat A, Bogatcheva NV, Jones E, Lamb DJ, Truong A, Bishop CE, McElreavey K, Agoulnik AI 2002 Mutations of the GREAT gene cause cryptorchidism. Hum Mol Genet 11:2309-2318
17. Kumagai J, Hsu SY, Matsumi H, Rob JS, Fu P, Wade JD, Bathgate RA, Hsueh AJ 2002 INSL3/Leydig insulin-like peptide activates the LGR8 receptor important in testis descent. J Biol Chem 277:31283-31286
18. Krausz C, Quintana-Murci L, Fellous M, Siffroi JP, McElreavey K 2000 Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism. Mol Hum Reprod 6:298-302
19. Tomboc M, Lee PA, Mitwally MF, Schneck FX, Bellinger M, Witchel SF 2000 Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. J Clin Endocrinol Metab 85:4013-4018
20. Lim HN, Raipert-de Meyts E, Skakkebaek NE, Hawkins JR, Hughes IA 2001 Genetic analysis of the INSL3 gene in patients with maldescent of the testis. Eur J Endocrinol 144:129-137
21. Marin P, Ferlin A, Moro E, Garolla A, Foresta C 2001 Different insulin-like 3 (INSL3) gene mutations not associated with human cryptorchidism. J Endocrinol Invest 24:RC13-RC15
22. Marin P, Ferlin A, Moro E, Rossi A, Bartoloni L, Rossato M, Foresta C 2001 Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism. Am J Med Genet 103:348-349
23. Takahashi I, Takahashi T, Komatsu M, Matsuda J, Takada G 2001 Ala/Thr60 variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population. Pediatr Int 43:256-258
24. Baker LA, Nef S, Nguyen MT, Stapleton R, Pohl H, Parada LF 2002 The insulin-3 gene: lack of a genetic basis for human cryptorchidism. J Urol 167: 2534-2537
25. Canto P, Escudero I, Soderlund D, Nishimura E, Carranza-Lira S, Gutierrez J, Nava A, Mendez JP 2003 A novel mutation of the insulin-like 3 gene in patients with cryptorchidism. J Hum Genet 48:86-90
26. WHO 1999 WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction. Cambridge: Cambridge University Press
27. Foresta C, Varotto A, Scandellari C 1992 Assessment of testicular cytology by fine needle aspiration as a diagnostic parameter in the evaluation of the azoospermic subject. Fertil Steril 57:858-865
28. Guex N, Peitsch MC 1997 SWISS-MODEL and the Swiss-Pdb viewer: an environment for comparative protein modelling. Electrophoresis 18:2714-2723
29. Marino M, Braun L, Cossart P, Ghosh P 1999 Structure of the Inlb leucine-rich repeats, a domain that triggers host cell invasion by the bacterial pathogen L. manocytogenes. Mol Cell 4:1063
30. Kobe B, Deisenhofer J 1996 Mechanism of ribonuclease inhibition by ribonuclease inhibitor protein based on the crystal structure of ist complex with ribonuclease A. J Mol Biol 26:1028
31. Huizinga EG, Tsuji S, Romijn RAP, Schiphorst ME, De Groot PG, Sixma JJ, Gros P 2002 Structures of glycoprotein Ibα and its complex with von Willebrand factor A1 domain. Science 297:1176
32. Smith GD, Pangborn WA, Blessing RH 2001 Phase changes in T3R3F human insulin: temperature or pressure induced? Acta Crystallogr Sect D 57:1091
33. Russo AA, Tong L, Lee JO, Jeffrey PD, Pevletich NP 1998 Structural basis for inhibition of the cyclin-dependent kinase Cdk6 by the tumor suppressor p16INK4a. Nature 395:217-221
34. Kelley LA, MacCallum RM, Sternberg MJE 2000 Enhanced genome annotation using structural profiles in the program 3D-PSSM. J Mol Biol 299:499-520
35. Vriend G 1990 What if: a molecular modelling and drug design program. J Mol Graph 8:52-56
36. Bairoch A, Bucher P, Hofmann K 1997 The PROSITE database, its status. Nucleic Acids Res 25:217-221
37. Brendel V, Bucher P, Nourbakhsh I, Blaisdell BE, Karlin S 1992 Methods and algorithms for statistical analysis of protein sequences. Proc Natl Acad Sci USA 89:2002-2006
38. McGuffin LJ, Bryson K, Jones DT 2000 The PSIPRED protein structure prediction server. Bioinformatics 16:404-405
39. Foresta C, Ferlln A, Gianaroli L, Dallapiccola B 2002 Guidelines for the appropriate use of genetic tests in infertile couple. Eur J Hum Genet 10:303-312
40. Foresta C, Moro E, Ferlin A 2001 Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 22:226-239
41. Foresta C, Moro E, Garolla A, Onisto M, Ferlin A 1999 Y chromosome microdeletions in cryptorchidism and idiopathic infertility. J Clin Endocrinol Metab 84:3660-3665
42. Ivell R, Bathgate RA 2002 Reproductive biology of the relaxin-like factor (RLF/INSL3). Biol Reprod 67:699-705
43. Nguyen MT, Showalter PR, Timmons CF, Nef S, Parada LF, Baker LA 2002 Effects of orchidopexy on congenitally cryptorchid insulin-3 knockout mice. J Urol 168:1779-1783
44. Bullesbach EE, Schwabe C 1999 Specific, high affinity relaxin-like factor receptors. J Biol Chem 274:22354-22358