title: Genetic testing for male infertility: a postulated role for mutations in sperm nuclear matrix attachment regions.
abstract: Numerous reports have suggested that disturbances in nuclear condensation may result in male infertility. This notion has been supported by the observation of infertile individuals with a decrease or absence of the male sperm-specific chromatin packaging protamine proteins. To date, no correlation between the absence of protamine proteins and a mutation within the coding regions of the protamine genes has been documented. To address this issue, PCR-based mutation scanning analysis has been performed across the human male haploid expressed PRM1-->PRM2-->TNP2 domain in several oligozoospermic infertile individuals. This analysis identified a candidate mutation in a region of contact with the sperm nuclear matrix from 2 of 5 affected individuals. This is the first report of a mutation scan covering the entire PRM1-->PRM2-->TNP2 locus in affected individuals.
authors.affiliation: Department of Obstetrics & Gynecology, Wayne State University School of Medicine, Detroit, MI 48102, USA.
authors.forename: J A
authors.initials: JA
authors.lastname: Kramer
authors.forename: S
authors.initials: S
authors.lastname: Zhang
authors.forename: Y
authors.initials: Y
authors.lastname: Yaron
authors.forename: Y
authors.initials: Y
authors.lastname: Zhao
authors.forename: S A
authors.initials: SA
authors.lastname: Krawetz
mesh_terms: D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009154:Mutation; D015530:Nuclear Matrix / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011479:Protamines / Q000235:genetics; D013094:Spermatozoa / Q000378:metabolism*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; C082073:PRM1 protein, human; D011479:Protamines; C068621:protamine 2; C053886:spermatid transition proteins