title: Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism.
abstract: In testicular descent to the scrotum, a multistep process, many anatomical and hormonal factors play a role. Cryptorchidism occurs in about 1-2% of males and may cause secondary degeneration of the testes. Animal models have shown that abnormalities, in the calcitonin gene-related peptide (CgRP) activity, could be relevant in the pathogenesis of cryptorchidism. We performed a mutation screening by PCR exon amplification, single-strand conformation polymorphism (SSCP) and sequencing in four candidate genes, CgRPs (alphaCgRP, betaCgRP), their receptor (CgRPR) and the receptor component protein (CgRP-RCP), in 90 selected cases of idiopathic unilateral or bilateral cryptorchidism. Mutation screening of the coding regions and intron-exon boundaries revealed some polymorphic variants but no pathogenic sequence changes. These preliminary data suggest that these genes are not major factors for cryptorchidism in humans.
authors.affiliation: Department of Molecular Medicine and Pathology, University La Sapienza, Rome, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Zuccarello
authors.forename: E
authors.initials: E
authors.lastname: Morini
authors.forename: S
authors.initials: S
authors.lastname: Douzgou
authors.forename: A
authors.initials: A
authors.lastname: Ferlin
authors.forename: A
authors.initials: A
authors.lastname: Pizzuti
authors.forename: D C
authors.initials: DC
authors.lastname: Salpietro
authors.forename: C
authors.initials: C
authors.lastname: Foresta
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000328:Adult; D015740:Calcitonin Gene-Related Peptide / Q000235:genetics*; D003456:Cryptorchidism / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D007150:Immunohistochemistry; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000502:physiology*; D015347:RNA Probes; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D015347:RNA Probes; D015740:Calcitonin Gene-Related Peptide