INSL3/LGR8 role in testicular descent and cryptorchidism

Reproductive BioMedicine Online

Volumn 10, Issue 1, 2005, Pages 49-54

  Bogatcheva, Natalia V ^a   Agoulnik, A I ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Cryptorchidism; GREAT LGR8; Infertility; INSL3; Male differentiation

Indexed keywords

G PROTEIN COUPLED RECEPTOR; INSULIN DERIVATIVE; PROTEIN LGR8; RELAXIN LIKE FACTOR; UNCLASSIFIED DRUG;

ARTICLE; CRYPTORCHISM; DISEASE ASSOCIATION; DISEASE MODEL; ENDOCRINE DISEASE; FUNCTIONAL ANATOMY; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; INCIDENCE; MALE; MALE INFERTILITY; MOLECULAR DYNAMICS; NONHUMAN; PHENOTYPE; PROTEIN FUNCTION; RECEPTOR INTRINSIC ACTIVITY; RISK FACTOR; TESTIS CANCER; TESTIS DESCENT;

EID: 11944274816     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1472-6483(10)60803-6     Document Type: Article

References (48)

1. Adham IM, Steding G, Thamm T et al. 2002 The overexpression of the Insl3 in female mice causes descent of the ovaries. Molecular Endocrinology 16, 244-252.
2. Baker LA, Nef S, Nguyen MT et al. 2002 The insulin-3 gene: lack of a genetic basis for human cryptorchidism. Journal of Urology 167, 2534-2537.
3. Balvers M, Spiess AN, Domagalski R et al. 1998 Relaxin-like factor expression as a marker of differentiation in the mouse testis and ovary. Endocrinology 139, 2960-2970.
4. Bogatcheva NV, Truong A, Feng S et al. 2003 GREAT/LGR8 is the only receptor for insulin-like 3 peptide. Molecular Endocrinology 17, 2639-2646.
5. Boockfor FR, Fullbright G, Bullesbach EE et al. 2001 Relaxin-like factor (RLF) serum concentrations and gubernaculum RLF receptor display in relation to pre- and neonatal development in rats. Reproduction 122, 899-906.
6. Bullesbach EE, Schwabe C 1999a Specific, high affinity relaxin-like factor receptors. Journal of Biological Chemistry 274, 22354-22358.
7. Bullesbach EE, Schwabe C 1999b Tryptophan B27 in the relaxin-like factor (RLF) is crucial for RLF receptor-binding. Biochemistry 38, 3073-3078.
8. Canto P, Escudero I. Soderlund D et al. 2003 A novel mutation of the insulin-like 3 gene in patients with cryptorchidism. Journal of Human Genetics 48, 86-90.
9. Costa WS, Sampaio FJ, Favorito LA et al. 2002 Testicular migration: remodeling of connective tissue and muscle cells in human gubernaculum testis. Journal of Urology 167, 2171-2176.
10. Emmen JM, McLuskey A, Adham IM et al. 2000a Hormonal control of gubemaculum development during testis descent: gubernaculum outgrowth in vitro requires both insulin-like factor and androgen. Endocrinology 141, 4720-4727.
11. Emmen JM, Mcluskey A, Adham IM et al. 2000b Involvement of insulin-like factor 3 (Insl3) in diethylstilbestrol-induced cryptorchidism. Endocrinology 141, 846-849.
12. Feng S, Cortessis VK, Hwang A et al. 2004 Mutation analysis of the INSL3 and GREAT/LGR8 genes in familial cryptorchidism. Urology, in press.
13. Ferlin A, Simonato M, Bartoloni L et al. 2003 The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. Journal of Clinical Endocrinology and Metabolism 88, 4273-4279.
14. Foresta C, Ferlin A 2004 Role of INSL3 and LGR8 in cryptorchidism and testicular functions. Reproductive BioMedicine Online 9, 294-298.
15. Fu P, Layfield S, Ferraro T et al. 2004 Synthesis, conformation, receptor binding and biological activities of monobiotinylated human insulin-like peptide 3. Journal of Peptide Research 63, 91-98.
16. Giwercman A, Hansen LL, Skakkebaek NE 2000 Initiation of sperm production after bilateral orchiopexy: clinical and biological implications. Journal of Urology 163, 1255-1256.
17. Gorlov IP, Kamat A, Bogatcheva NY et al. 2002 Mutations of the GREAT gene cause cryptorchidism. Human Molecular Genetics 11, 2309-2318.
18. Hutson JM, Hasthorpe S, Heyns CF 1997 Anatomical and functional aspects of testicular descent and cryptorchidism. Endocrine Revews 18, 259-280.
19. Kawamura K, Kumagai J, Sudo S et al. 2004 Paracrine regulation of mammalian oocyte maturation and male germ cell survival. Proceedings of the National Academy of Sciences of the USA 101, 7323-7328.
20. Koskimies P, Virtanen H, Lindstrom M et al. 2000 A common polymorphism in the human relaxin-like factor (RLF) gene: no relationship with cryptorchidism. Pediatric Research 47, 538-541.
21. Koskimies P, Suvanto M, Nokkala E et al. 2003 Female mice carrying a ubiquitin promoter-Insl3 transgene have descended ovaries and inguinal hernias but normal fertility. Molecular and Cellular Endocrinology 206, 159-166.
22. Krausz C, Quintana-Murci L, Fellous M et al. 2000 Absence of mutation involving INSL3 gene in human idiopathic cryptorchidism. Molecular Human Reproduction 6, 298-302.
23. Kubota Y, Nef S, Farmer PJ et al. 2001 Leydig insulin-like hormone, gubernacular development and testicular descent. Journal of Urology 165, 1673-1675.
24. Kubota Y, Temelcos C, Bathgate RA et al. 2002 The role of insulin 3, testosterone, Mullerian inhibiting substance and relaxin in rat gubernacular growth. Molecular Human Reproduction 6, 900-905.
25. Kumagai J, Hsu S, Matsumi H et al. 2002 INSL3/Leydig insulin-like peptide activates the LGR8 receptor important in testis descent. Journal of Biological Chemistry 277, 31283-31286.
26. Lim HN, Meyts ER, Skakkebaek NE et al. 2001 Genetic analysis of the INSL3 gene in patients with maldescent of the testis. European Journal of Endocrinology 144, 129-137.
27. Lin YM, Hsu CC, Wu MH et al. 2001 Successful testicular sperm extraction and paternity in an azoospermic man after bilateral postpubertal orchiopexy. Urology 57, 365.
28. Marin P, Ferlin A, Moro E et al. 2001 a Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism. American Journal of Medical Genetics 103, 348-349.
29. Marin P, Ferlin A, Moro E et al. 2001b Different insulin-like 3 (INSL3) gene mutations not associated with human cryptorchidism. Journal of Endocrinological Investigation 24, RC13-RC15.
30. Nef S, Parada LF 1999 Cryptorchidism in mice mutant for Insl3. Nature Genetics 22, 295-299.
31. Nguyen MT, Showalter PR, Timmons CF et al. 2002 Effects of orchiopexy on congenitally cryptorchid insulin-3 knockout mice. Journal of Urology 168, 1779-1783.
32. O'Shaughnessy PJ, Willerton L, Baker PJ 2002 Changes in Leydig cell gene expression during development in the mouse. Biology of Reproduction 66, 966-975.
33. Overbeek PA, Gorlov IP, Sutherland RW et al. 2001 A transgenic insertion causing cryptorchidism in mice. Genesis 30, 26-35.
34. Paust HJ, Wessels J, Ivell R et al. 2002 The expression of the RLF/INSL3 gene is reduced in Leydig cells of the aging rat testis. Experimental Gerontology 37, 1459-1465.
35. Raman JD, Schlegel PN 2003 Testicular sperm extraction with intracytoplasmic sperm injection is successful for the treatment of nonobstructive azoospermia associated with cryptorchidism. Journal of Urology 170, 1287-1290.
36. Roh J, Virtanen H, Kumagai J et al. 2003 Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism. Reproductive BioMedicine Online 7, 400-406.
37. Sasagawa I, Nakada T, Yanagimachi R 2000 Application of ISCI for cryptorchid therapy. Archives of Andrology 45, 77-83.
38. Sharpe RM 2003 The 'oestrogen hypothesis'- where do we stand now? International Journal of Andrology 26, 2-15.
39. Smith KJ, Wade JD, Claasz AA et al. 2001 Chemical synthesis and biological activity of rat INSL3. Journal of Peptide Science 7, 495-501.
40. Spiess AN, Balvers M, Tena-Sampere M et al. 1999 Structure and expression of the rat relaxin-like factor (RLF) gene. Molecular Reproduction and Development 54, 319-325.
41. Takahashi I, Takahashi T, Komatsu M et al. 2001 Ala/Thr6O variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population. Pediatric International 43, 256-258.
42. Thonneau PF, Candia P, Mieusset R, 2003 Cryptorchidism: incidence, risk factors, and potential role of environment; an update. Journal of Andrology 24, 155-162.
43. Tomboc M, Lee PA, Mitwally MF et al. 2000 Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. Journal of Clinical Endocrinology and Metabolism 85, 4013-4018.
44. Tomiyama H, Hutson JM, Truong A et al. 2003 Transabdominal testicular descent is disrupted in mice with deletion of insulinlike factor 3 receptor. Journal of Pediatric Surgery 38, 1793-1798.
45. Toppari J, Kaleva M 1999 Maldescendus testis. Hormonal Research 51, 261-269.
46. Woodhouse CR 2001 Prospects for fertility in patients born with genitourinary anomalies. Journal of Urology 165, 2354-2360.
47. Zimmermann S, Schottler P, Engel W et al. 1997 Mouse Leydig insulin-like (Ley I-L) gene: structure and expression during testis and ovary development. Molecular Reproduction and Development 47, 30-38.
48. Zimmermann S, Steding G, Emmen JM et al. 1999 Targeted disruption of the Insl3 gene causes bilateral cryptorchidism. Molecular Endocrinology 13, 681-691.