PROBLEM: Infertility, affects about 5% of human males and genetic factors are recognized in approximately 30% of them. The mouse represents a good model to study autosomal genes that might play a role in spermatogenesis. In mice, mutations in the c-kit gene and in the gene encoding stem cell factor (SCF) cause pleiotropic defects among which sterility. A possible involvement of the SCF/c-kit system in human spermatogenesis was investigated. METHODS OF STUDY: A group of 65 idiopathic azoospermic patients was screened for the presence of mutations in the human c-kit gene codon encoding tyrosine 721 (Y721), analogous to Y719 in the murine c-kit gene (a residue known to be essential for a normal spermatogonial proliferation). Furthermore we have used a mouse model for studying the molecular mechanisms that regulate the transcription of the endogenous SCF gene. RESULTS: No mutations have been detected on codon encoding Y721 of the human e-kit gene, in our group of infertile patients. CONCLUSIONS: A larger group of azoospermic patients, including preferentially patients affected by Sertoli-cell-only syndrome, should be screened in order to exclude a role of c-kit mutations in Y721 in spermatogenesis defects. In this study we also show that the murine SCF promoter is transcriptionally active and stimulated by follicle stimulating hormone (FSH), 3'-5' cyclic adenosine monophosphate (cAMP) analogs, and IBMX in primary mouse Sertoli cells, and that the cAMP effect is cell-specific, as the SCF promoter is not stimulated in other SCF-expressing cell types tested.
Grimaldi, P., Rossi, P., Dolci Iannini S, Ripamonti CB, & Geremia, R. (2002). Molecular genetics of male infertility: Stem cell factor/c-kit system. AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, 48(1), 27-33.
|Tipologia:||Articolo su rivista|
|Citazione:||Grimaldi, P., Rossi, P., Dolci Iannini S, Ripamonti CB, & Geremia, R. (2002). Molecular genetics of male infertility: Stem cell factor/c-kit system. AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, 48(1), 27-33.|
|IF:||Con Impact Factor ISI|
|Settore Scientifico Disciplinare:||Settore BIO/16|
|Revisione (peer review):||Sì, ma tipo non specificato|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1034/j.1600-0897.2002.01095.x|
|Stato di pubblicazione:||Pubblicato|
|Data di pubblicazione:||2002|
|Titolo:||Molecular genetics of male infertility: Stem cell factor/c-kit system|
|Autori:||Grimaldi, P; Rossi, P; Dolci Iannini S; Ripamonti CB; Geremia, R|
|Appare nelle tipologie:||01 - Articolo su rivista|