Gulsah Koc1, Abdullah A Ozdemir2, Gozde Girgin3, Cem Akbal4, Deniz Kirac5, Tuba Avcilar3, Ahmet I Guney3. 1. Department of Medical Biology and Genetics, Faculty of Medicine, Istanbul Aydin University, Istanbul, Turkey. 2. Department of Urology, SBU Zeynep Kamil Women and Children's Diseases Education and Research Hospital, Istanbul, Turkey. 3. Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey. 4. Department of Urology, Faculty of Medicine, Acibadem University, Istanbul, Turkey. 5. Department of Medical Biology, Faculty of Medicine, Yeditepe University, Istanbul, Turkey.
Abstract
OBJECTIVES: To detect autosomal genetic defects and to determine candidate genes in Sertoli cell-only syndrome infertile men. METHODS: Single-nucleotide polymorphism + comparative genomic hybridization microarray technology was carried out on 39 Sertoli cell-only syndrome infertile patients in the present study. Array comparative genomic hybridization compares the patient's genome against a reference genome, and identifies uncover deletions, amplifications and loss of heterozygosity. RESULTS: A link between defective spermatogenesis genes and infertility was examined, and amplifications and deletions in several genes were detected, including homeobox gene; synaptonemal complex element protein 1; collagen, type I, alpha 1; imprinted maternally expressed transcript; and potassium voltage-gated channel subfamily Q member 1. CONCLUSIONS: The present data suggest that several genes can play an important role in spermatogenesis and progression of Sertoli cell-only syndrome.
OBJECTIVES: To detect autosomal genetic defects and to determine candidate genes in Sertoli cell-only syndrome infertilemen. METHODS: Single-nucleotide polymorphism + comparative genomic hybridization microarray technology was carried out on 39 Sertoli cell-only syndrome infertilepatients in the present study. Array comparative genomic hybridization compares the patient's genome against a reference genome, and identifies uncover deletions, amplifications and loss of heterozygosity. RESULTS: A link between defective spermatogenesis genes and infertility was examined, and amplifications and deletions in several genes were detected, including homeobox gene; synaptonemal complex element protein 1; collagen, type I, alpha 1; imprinted maternally expressed transcript; and potassium voltage-gated channel subfamily Q member 1. CONCLUSIONS: The present data suggest that several genes can play an important role in spermatogenesis and progression of Sertoli cell-only syndrome.
Authors: Lucia A Torres-Fernández; Jana Emich; Yasmine Port; Sibylle Mitschka; Marius Wöste; Simon Schneider; Daniela Fietz; Manon S Oud; Sara Di Persio; Nina Neuhaus; Sabine Kliesch; Michael Hölzel; Hubert Schorle; Corinna Friedrich; Frank Tüttelmann; Waldemar Kolanus Journal: Front Cell Dev Biol Date: 2021-05-13