We are analyzing https://link.springer.com/article/10.1007/s00439-020-02236-1.

Title:
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia | Human Genetics
Description:
Non-obstructive azoospermia (NOA), the lack of spermatozoa in semen due to impaired spermatogenesis affects nearly 1% of men. In about half of cases, an underlying cause for NOA cannot be identified. This study aimed to identify novel variants associated with idiopathic NOA. We identified a nonconsanguineous family in which multiple sons displayed the NOA phenotype. We performed whole-exome sequencing in three affected brothers with NOA, their two unaffected brothers and their father, and identified compound heterozygous frameshift variants (one novel and one extremely rare) in Telomere Repeat Binding Bouquet Formation Protein 2 (TERB2) that segregated perfectly with NOA. TERB2 interacts with TERB1 and Membrane Anchored Junction Protein (MAJIN) to form the tripartite meiotic telomere complex (MTC), which has been shown in mouse models to be necessary for the completion of meiosis and both male and female fertility. Given our novel findings of TERB2 variants in NOA men, along with the integral role of the three MTC proteins in spermatogenesis, we subsequently explored exome sequence data from 1495 NOA men to investigate the role of MTC gene variants in spermatogenic impairment. Remarkably, we identified two NOA patients with likely damaging rare homozygous stop and missense variants in TERB1 and one NOA patient with a rare homozygous missense variant in MAJIN. Available testis histology data from three of the NOA patients indicate germ cell maturation arrest, consistent with mouse phenotypes. These findings suggest that variants in MTC genes may be an important cause of NOA in both consanguineous and outbred populations.
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Keywords {🔍}

article, pubmed, google, scholar, terb, cas, infertility, protein, male, hum, sequencing, variant, genet, central, variants, genetic, human, majin, noa, sequence, exon, httpsdoiorgs, university, data, genes, genome, genetics, telomere, men, nonobstructive, azoospermia, alignment, moesmesmtif, fig, validation, tif, meiotic, tüttelmann, james, conrad, spermatogenesis, family, reprod, nat, krausz, utah, usa, detected, content, research,

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         headline:Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia
         description:Non-obstructive azoospermia (NOA), the lack of spermatozoa in semen due to impaired spermatogenesis affects nearly 1% of men. In about half of cases, an underlying cause for NOA cannot be identified. This study aimed to identify novel variants associated with idiopathic NOA. We identified a nonconsanguineous family in which multiple sons displayed the NOA phenotype. We performed whole-exome sequencing in three affected brothers with NOA, their two unaffected brothers and their father, and identified compound heterozygous frameshift variants (one novel and one extremely rare) in Telomere Repeat Binding Bouquet Formation Protein 2 (TERB2) that segregated perfectly with NOA. TERB2 interacts with TERB1 and Membrane Anchored Junction Protein (MAJIN) to form the tripartite meiotic telomere complex (MTC), which has been shown in mouse models to be necessary for the completion of meiosis and both male and female fertility. Given our novel findings of TERB2 variants in NOA men, along with the integral role of the three MTC proteins in spermatogenesis, we subsequently explored exome sequence data from 1495 NOA men to investigate the role of MTC gene variants in spermatogenic impairment. Remarkably, we identified two NOA patients with likely damaging rare homozygous stop and missense variants in TERB1 and one NOA patient with a rare homozygous missense variant in MAJIN. Available testis histology data from three of the NOA patients indicate germ cell maturation arrest, consistent with mouse phenotypes. These findings suggest that variants in MTC genes may be an important cause of NOA in both consanguineous and outbred populations.
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      description:Non-obstructive azoospermia (NOA), the lack of spermatozoa in semen due to impaired spermatogenesis affects nearly 1% of men. In about half of cases, an underlying cause for NOA cannot be identified. This study aimed to identify novel variants associated with idiopathic NOA. We identified a nonconsanguineous family in which multiple sons displayed the NOA phenotype. We performed whole-exome sequencing in three affected brothers with NOA, their two unaffected brothers and their father, and identified compound heterozygous frameshift variants (one novel and one extremely rare) in Telomere Repeat Binding Bouquet Formation Protein 2 (TERB2) that segregated perfectly with NOA. TERB2 interacts with TERB1 and Membrane Anchored Junction Protein (MAJIN) to form the tripartite meiotic telomere complex (MTC), which has been shown in mouse models to be necessary for the completion of meiosis and both male and female fertility. Given our novel findings of TERB2 variants in NOA men, along with the integral role of the three MTC proteins in spermatogenesis, we subsequently explored exome sequence data from 1495 NOA men to investigate the role of MTC gene variants in spermatogenic impairment. Remarkably, we identified two NOA patients with likely damaging rare homozygous stop and missense variants in TERB1 and one NOA patient with a rare homozygous missense variant in MAJIN. Available testis histology data from three of the NOA patients indicate germ cell maturation arrest, consistent with mouse phenotypes. These findings suggest that variants in MTC genes may be an important cause of NOA in both consanguineous and outbred populations.
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      affiliation:
            name:University of Münster
            address:
               name:Institute of Medical Informatics, University of Münster, Munster, Germany
               type:PostalAddress
            type:Organization
      name:James M. Hotaling
      affiliation:
            name:University of Utah School of Medicine
            address:
               name:Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, USA
               type:PostalAddress
            type:Organization
            name:University of Utah School of Medicine
            address:
               name:Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, USA
               type:PostalAddress
            type:Organization
      name:Liina Nagirnaja
      affiliation:
            name:Oregon National Primate Research Center, Oregon Health and Science University
            address:
               name:Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, USA
               type:PostalAddress
            type:Organization
      name:Donald F. Conrad
      affiliation:
            name:Oregon National Primate Research Center, Oregon Health and Science University
            address:
               name:Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, USA
               type:PostalAddress
            type:Organization
            name:Washington University School of Medicine
            address:
               name:Department of Genetics, Washington University School of Medicine, St. Louis, USA
               type:PostalAddress
            type:Organization
      name:Douglas T. Carrell
      affiliation:
            name:University of Utah School of Medicine
            address:
               name:Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, USA
               type:PostalAddress
            type:Organization
            name:University of Utah School of Medicine
            address:
               name:Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, USA
               type:PostalAddress
            type:Organization
      name:Kenneth I. Aston
      url:http://orcid.org/0000-0001-6459-2103
      affiliation:
            name:University of Utah School of Medicine
            address:
               name:Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, USA
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, USA
      name:Institute of Reproductive Genetics, University of Münster, Münster, Germany
      name:Institute of Reproductive Genetics, University of Münster, Münster, Germany
      name:Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster, Germany
      name:Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster, Germany
      name:i3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal
      name:IPATIMUP-Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal
      name:Departamento de Genética Humana, Instituto Nacional de Saúde Dr Ricardo Jorge, Lisbon, Portugal
      name:ToxOmics-Centro de Toxicogenómica e Saúde Humana, Nova Medical School, Lisbon, Portugal
      name:Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, USA
      name:Utah Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, USA
      name:Institute of Medical Informatics, University of Münster, Munster, Germany
      name:Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, USA
      name:Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, USA
      name:Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, USA
      name:Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, USA
      name:Department of Genetics, Washington University School of Medicine, St. Louis, USA
      name:Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, USA
      name:Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, USA
      name:Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, USA
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