The insulin-3 gene

Lack of a genetic basis for human cryptorchidism

Linda A. Baker, Serge Nef, Michael T. Nguyen, Ronita Stapleton, Hans Pohl, Luis F. Parada

Research output: Contribution to journalArticle

47 Citations (Scopus)

Abstract

Purpose: The etiology of cryptorchidism appears to be multifactorial and related to hormonal and mechanical factors. Recently, the insulin-3 gene (INSL3) was noted to have a role in mouse gubernacular development and testicular descent. Knockout male mice for the INSL3 gene show isolated bilateral cryptorchidism. This phenotype suggests that INSL3 may have a role in the development of human cryptorchidism. Using single strand conformational polymorphism analysis we detected mutations of the INSL3 gene in boys with cryptorchidism. Materials and Methods: Genomic DNA from 118 boys with cryptorchidism and 48 normal controls were obtained from 3 institutions. Using polymerase chain reaction with INSL3 sequence specific primers DNA fragments were analyzed using single strand conformational polymorphism reactions. Samples with band shifts were re-amplified and sequenced to detect mutations. Results: A single base substitution (G greater than A) causing an amino acid change (missense mutation) was identified in 27 of 118 cryptorchid (23%) samples and 12 of 48 normal (25%) samples. Two other base substitutions did not produce alterations in the amino acid sequence (silent mutations). Conclusions: Although a common polymorphism was detected in the INSL3 gene, no specific mutations were detected in a large population of individuals with cryptorchidism. Therefore, mutations in the coding region of the INSL3 gene are not a common cause of human cryptorchidism.

Original languageEnglish (US)
Pages (from-to)2534-2537
Number of pages4
JournalJournal of Urology
Volume167
Issue number6
StatePublished - 2002

Fingerprint

Cryptorchidism
Medical Genetics
Insulin
Genes
Mutation
DNA Primers
Human Development
Missense Mutation
Knockout Mice
Amino Acid Sequence
Phenotype

Keywords

  • Abnormalities
  • Cryptorchidism
  • Gene expression
  • Urethra

ASJC Scopus subject areas

  • Urology

Cite this

Baker, L. A., Nef, S., Nguyen, M. T., Stapleton, R., Pohl, H., & Parada, L. F. (2002). The insulin-3 gene: Lack of a genetic basis for human cryptorchidism. Journal of Urology, 167(6), 2534-2537.

The insulin-3 gene : Lack of a genetic basis for human cryptorchidism. / Baker, Linda A.; Nef, Serge; Nguyen, Michael T.; Stapleton, Ronita; Pohl, Hans; Parada, Luis F.

In: Journal of Urology, Vol. 167, No. 6, 2002, p. 2534-2537.

Research output: Contribution to journalArticle

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', Journal of Urology, vol. 167, no. 6, pp. 2534-2537.
Baker LA, Nef S, Nguyen MT, Stapleton R, Pohl H, Parada LF. The insulin-3 gene: Lack of a genetic basis for human cryptorchidism. Journal of Urology. 2002;167(6):2534-2537.
Baker, Linda A. ; Nef, Serge ; Nguyen, Michael T. ; Stapleton, Ronita ; Pohl, Hans ; Parada, Luis F. / The insulin-3 gene : Lack of a genetic basis for human cryptorchidism. In: Journal of Urology. 2002 ; Vol. 167, No. 6. pp. 2534-2537.
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