Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism

Jaesook Roh, Helena Virtanen, Jin Kumagai, Satoko Sudo, Marko Kaleva, Jorma Toppari, Aaron J.W. Hsueh

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Cryptorchidism is the most frequent congenital anomaly of the urogenital tract in the male. Although in Western countries 1-2% of males at the age of 3 months are diagnosed with this condition, its aetiology is still unknown. Animal models suggest a possible genetic basis for this disorder. Recently, the INSL3 (Leydig insulin-like peptide) gene and its cognate receptor, LGR8, were found to be important in testicular descent by regulating gubernacular development. Male mice null for either INSL3 or LGR8 genes exhibited bilateral cryptorchidism. Because earlier studies indicated that mutation of the INSL3 gene is not associated with the development of human cryptorchidism, this study analysed whether mutations in the LGR8 gene could be associated with this disorder. Sequencing of 18 exons of the LGR8 gene in 23 cryptorchid Finnish patients and a group of 33 control subjects allowed the identification of three nucleotide changes in exons 12 and 17, showing single base substitutions from A to G at positions 957, 993, and 1810 of LGR8. Among the three changes, only the 1810 A to G substitution is associated with an amino acid change from isoleucine to valine (Ile604Val) located in the fifth transmembrane domain of this seven-transmembrane receptor. This change was more frequent in a control group of normal fertile adult males and infant boys than in the group of cryptorchid males. The change is not associated with altered receptor signalling, thus suggesting the presence of a polymorphism unrelated to the cryptorchid phenotype. These data indicate that mutations involving the human LGR8 gene do not represent a frequent cause of cryptorchidism in the Finnish population.

Original languageEnglish
Pages (from-to)400-406
Number of pages7
JournalReproductive BioMedicine Online
Volume7
Issue number4
DOIs
StatePublished - 2003 Jan 1

Fingerprint

Cryptorchidism
Mutation
Genes
Exons
Control Groups
Inborn Genetic Diseases
Isoleucine
Valine
Human Development
Nucleotides
Animal Models
Insulin
Phenotype
Amino Acids
Peptides
Population

Keywords

  • Cryptorchidism
  • INSL3
  • LGR8
  • Mutation

Cite this

Roh, Jaesook ; Virtanen, Helena ; Kumagai, Jin ; Sudo, Satoko ; Kaleva, Marko ; Toppari, Jorma ; Hsueh, Aaron J.W. / Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism. In: Reproductive BioMedicine Online. 2003 ; Vol. 7, No. 4. pp. 400-406.
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Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism. / Roh, Jaesook; Virtanen, Helena; Kumagai, Jin; Sudo, Satoko; Kaleva, Marko; Toppari, Jorma; Hsueh, Aaron J.W.

In: Reproductive BioMedicine Online, Vol. 7, No. 4, 01.01.2003, p. 400-406.

Research output: Contribution to journalArticle

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AU - Virtanen, Helena

AU - Kumagai, Jin

AU - Sudo, Satoko

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AU - Toppari, Jorma

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