title: Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility.
abstract: OBJECTIVE
  To screen populations of fertile men, severely infertile men, and infertility patients with aberrations in the protamine-1-to-protamine-2 ratio (P1/P2) for clinically relevant alterations in the P1, P2, transition protein 1 (TP1), and transition protein 2 (TP2) genes.
  
  
  METHODS
  Prospective case-control study.
  
  
  METHODS
  University-based infertility clinic.
  
  
  METHODS
  Ninety-six fertile men, 96 severely infertile men, and 96 infertility patients with aberrations in the sperm P1/P2 ratio.
  
  
  METHODS
  Sperm nuclear protein extraction, gel electrophoresis, and densitometry to evaluate the P1/P2 ratios of infertility patients. DNA extraction, polymerase chain reaction (PCR), and gene sequencing to screen the nuclear protein genes.
  
  
  METHODS
  Sperm P1/P2 ratios and single nucleotide polymorphisms (SNPs) in the sperm nuclear protein genes (P1, P2, TP1, and TP2).
  
  
  RESULTS
  Fifteen SNPs were identified in the nuclear protein genes, 12 of which were previously unreported. Five variants were identified that resulted in amino acid changes (one in P1, one in TP1, and three in TP2). The frequency of the 15 SNPs was similar in protamine-deficient patients, severely infertile patients, and fertile controls.
  
  
  CONCLUSIONS
  A number of SNPs are present in the testis-specific nuclear protein genes. However, the gene variants do not appear to underlie protamine deficiency and severe male infertility.
authors.affiliation: Andrology and IVF Laboratories, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA.
authors.forename: Vincent W
authors.initials: VW
authors.lastname: Aoki
authors.forename: Greg L
authors.initials: GL
authors.lastname: Christensen
authors.forename: John F
authors.initials: JF
authors.lastname: Atkins
authors.forename: Douglas T
authors.initials: DT
authors.lastname: Carrell
mesh_terms: D000328:Adult; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D011446:Prospective Studies; D011479:Protamines / Q000235:genetics*; D013094:Spermatozoa / Q000378:metabolism*; D014589:Utah / Q000453:epidemiology
chemical_list: D009687:Nuclear Proteins; C082073:PRM1 protein, human; D011479:Protamines; C068621:protamine 2