title: Protamine-1 and -2 polymorphisms and gene expression in male infertility: an Italian study.
abstract: BACKGROUND
  Correct histone/protamine replacement is an important stage in chromatin condensation during spermiogenesis in humans. There are two types of protamines: protamine 1 (P1) and the protamine 2 family (P2, P3, and P4), coded by the genes PRM1 and PRM2.
  
  
  OBJECTIVE
  We analyze the sequences and gene expression of PRM1 and PRM2 and their relationship with defective spermatogenesis.
  
  
  METHODS
  Sequence analysis was carried out on 163 patients attending our laboratory for analysis of seminal fluid. Patients were divided into three groups: normozoospermic (53), teratozoospermic (60), and azoospermic (50). Gene expression was analyzed in seven patients with azoospermia and one with cryptozoospermia.
  
  
  RESULTS
  Seven single nuclotide polymorphisms (SNP) were identified: G54A, G102T and C230A for PRM1, and C246T, G288C, G298C and C373A for PRM2. For C230A, the CA genotype was present in 38% of teratozoospermic vs 55% of normozoospermic and 64% of azoospermic patients; for C373A, CA was found in 37% of teratozoospermic vs 47% of normozoospermic and 64% of azoospermic patients. In contrast, for G298C, GC was more common in the teratozoospermic (63%) than in the normozoospermic (49%) or azoospermic (48%) groups. These differences could suggest a greater susceptibility of these patients to abnormal sperm morphology. In five patients the levels of transcripts were reduced with respect to the control.
  
  
  CONCLUSIONS
  These data suggest that premeiotic arrest is associated with extremely reduced protamine expression. New studies of both PRM1 and PRM2 and their mRNA expression could help us better understand the molecular mechanisms underlying the protamine transcription and translation processes.
authors: Department of Experimental Medicine, University of Rome "La Sapienza", Viale del Policlinico 155, 00161 Rome, Italy.
authors: D
authors: D
authors: Grassetti
authors: D
authors: D
authors: Paoli
authors: M
authors: M
authors: Gallo
authors: A
authors: A
authors: D'Ambrosio
authors: F
authors: F
authors: Lombardo
authors: A
authors: A
authors: Lenzi
authors: L
authors: L
authors: Gandini
mesh_terms: D000328:Adult; D006801:Humans; D007248:Infertility, Male / Q000145:classification / Q000235:genetics*; D007558:Italy; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011479:Protamines / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012661:Semen / Q000737:chemistry* / Q000378:metabolism; D013091:Spermatogenesis / Q000502:physiology*
chemical_list: C082073:PRM1 protein, human; D011479:Protamines; D012333:RNA, Messenger; C068621:protamine 2