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ArtikelCharacterization of two heterozygous mutations of the oocyte activation factor phospholipase C zeta (PLC?) from an infertile man by use of minisequencing of individual sperm and expression in somatic cells  
Oleh: Kashir, Junaid ; Konstantinidis, Michalis ; Jones, Celine ; Heindryckx, Bjorn
Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 98 no. 02 (Aug. 2012), page 423-431.
Topik: GENETICS; Infertility; mutation; oocyte activation; phospholipase C zeta (PLCzeta); sperm
  • Perpustakaan FK
    • Nomor Panggil: F02.K.2012.02
    • Non-tandon: 1 (dapat dipinjam: 0)
    • Tandon: tidak ada
    Lihat Detail Induk
Isi artikelObjective To examine the underlying factors leading to infertility in a male patient from whom phospholipase C zeta H398P (PLC?H398P, histidine > proline) and PLC?H233L (histidine > leucine) mutations were previously identified. Design Laboratory-based study. Setting University laboratory. Patient(s) An infertile 38-year-old man with significantly impaired oocyte activation ability. Intervention(s) Minisequencing of individual sperm for PLC?H398P and PLC?H233L, and investigation of localization patterns arising from the expression of fluorescently tagged PLC? isoforms in HEK293T cells. Main Outcome Measure(s) The presence/absence of PLC?H398P and PLC?H233L determined in individual sperm (n = 12 sperm), and localization of fluorescent mutant PLC? isoforms quantified in HEK293T cells. Result(s) Sperm possessed either PLC?H233L or PLC?H398P, but never both at the same time. Fluorescent PLC?H233L and PLC?H233L+H398P (both mutations together) localized to discrete regions in HEK293T cytoplasm but not the plasma membrane. Fluorescence statistically significantly varied between constructs such that PLC?WT > mutant isoforms at both 48- and 56-hour time points. Fluorescent-PLC?H233L+H398P exhibited a statistically significantly reduced level of fluorescence compared with PLC?H398P at 48 hours but not 56 hours. Conclusion(s) Both H398P and H233L mutations are present on different alleles and do not alter PLC? localization in HEK293T cells. Loss-of-activity mutations in PLC? may contribute not only toward male infertility but also male subfertility in cases where PLC? is mutated on a single allele.
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