title: Novel mutations in ubiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility.
abstract: OBJECTIVE
  To study the incidence of single nucleotide polymorphisms in ubiquitin-specific protease 26 (USP26) gene and its involvement in idiopathic male infertility in China.
  
  
  METHODS
  Routine semen analysis was performed. Infertility factors such as immunological, infectious and biochemical disorders were examined to select patients with idiopathic infertility. DNA was isolated from peripheral blood of the selected patients and control population, which were examined for mutations using polymerase chain reaction-single strand conformation polymorphism analysis. Furthermore, nucleotide sequences were sequenced in some patients and controls.
  
  
  RESULTS
  Of 41 infertile men, 9 (22.0%, P = 0.01) had changes in USP26 gene on the X chromosome. A compound mutation (364insACA; 460G right triple arrow A) was detected in 8 patients (19.5%, P = 0.01) and a 1044T right triple arrow A substitution was found in 1 patient (2.4%, P > 0.05). All three variations led to changes in the coding amino acids. Two substitutions predict some changes: 460G right triple arrow A changes a valine into an isoleucine, and 1044T right triple arrow A substitutes a leucine for a phenylalanine. Another insertion of three nucleotides ACA causes an insertion of threonine. No other changes were found in the remaining patients and fertile controls.
  
  
  CONCLUSIONS
  The USP26 gene might be of importance in male reproduction. Mutations in this gene might be associated with male infertility, and might negatively affect testicular function. Further research on this issue is in progress.
authors.affiliation: Department of Anatomy, Histology and Embryology, Medical College of Xi'an Jiaotong University, Xi'an 710061, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.forename: Shu-Dong
authors.initials: SD
authors.lastname: Qiu
authors.forename: Sheng-Bin
authors.initials: SB
authors.lastname: Li
authors.forename: Dang-Xia
authors.initials: DX
authors.lastname: Zhou
authors.forename: Hong
authors.initials: H
authors.lastname: Tian
authors.forename: Yong-Wei
authors.initials: YW
authors.lastname: Huo
authors.forename: Ling
authors.initials: L
authors.lastname: Ge
authors.forename: Qiu-Yang
authors.initials: QY
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000208:ethnology / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D003546:Cysteine Endopeptidases / Q000235:genetics / Q000378:metabolism; D010450:Endopeptidases / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D015994:Incidence; D007248:Infertility, Male / Q000208:ethnology / Q000235:genetics*; D007985:Leydig Cells / Q000378:metabolism; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012708:Sertoli Cells / Q000378:metabolism; D013091:Spermatogenesis / Q000235:genetics*; D013737:Testis / Q000378:metabolism; D064570:Ubiquitin-Specific Proteases
chemical_list: D012333:RNA, Messenger; C501866:USP26 protein, human; D010450:Endopeptidases; D064570:Ubiquitin-Specific Proteases; D003546:Cysteine Endopeptidases