Literature DB >> 19268936

Molecular analysis of the PArkin co-regulated gene and association with male infertility.

Gabrielle R Wilson1, Marcus L-J Sim, Kate M Brody, Juliet M Taylor, Robert I McLachlan, Moira K O'Bryan, Martin B Delatycki, Paul J Lockhart.   

Abstract

OBJECTIVE: To investigate the potential role of PArkin co-regulated gene (PACRG) in human male infertility.
DESIGN: Case-control study.
SETTING: Academic reproductive biology department. PATIENT(S): Blood samples were obtained from 610 patients and 156 normal control subjects. INTERVENTION(S): Genomic DNA was used as template for polymerase chain reaction amplification of the PACRG promoter and coding exons. The amplified fragments were tested for DNA sequence variations by direct sequencing and restriction enzyme analysis. MAIN OUTCOME MEASURE(S): Gene structure and sequence alterations of PACRG in infertile male patients. RESULT(S): The structure of PACRG was determined to comprise 5 coding exons, generating a single transcript in the testis which encoded a predicted protein of 257 amino acids. No pathogenic mutations were identified; however, a variant in the promoter of PACRG was shown to be significantly associated with azoospermia, but not oligospermia, in the case-control cohort. CONCLUSION(S): Mutation of PACRG was not identified as a cause of male infertility, but variation in the promoter was demonstrated to be a risk factor associated with azoospermia. Copyright 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

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Year:  2009        PMID: 19268936     DOI: 10.1016/j.fertnstert.2009.01.079

Source DB:  PubMed          Journal:  Fertil Steril        ISSN: 0015-0282            Impact factor:   7.329


  8 in total

1.  An integrative genomic analysis of the superior fecundity phenotype in QSi5 mice.

Authors:  Jerry Wei; Palaniappan Ramanathan; Peter C Thomson; Ian C Martin; Christopher Moran; Peter Williamson
Journal:  Mol Biotechnol       Date:  2013-02       Impact factor: 2.695

2.  An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population.

Authors:  Jing Zhang; Dang-xia Zhou; Hai-xu Wang; Zhao Tian
Journal:  J Assist Reprod Genet       Date:  2011-05-10       Impact factor: 3.412

3.  Study of single nucleotide polymorphism (rs28368082) in SPO11 gene and its association with male infertility.

Authors:  Esmat Ghalkhani; Masoud Sheidai; Hamid Gourabi; Zahra Noormohammadi; Narjes Bakhtari; Ali Mohammad Malekasgar
Journal:  J Assist Reprod Genet       Date:  2014-07-09       Impact factor: 3.412

4.  MEIG1 is essential for spermiogenesis in mice.

Authors:  Zhibing Zhang; Xuening Shen; David R Gude; Bonney M Wilkinson; Monica J Justice; Charles J Flickinger; John C Herr; Edward M Eddy; Jerome F Strauss
Journal:  Proc Natl Acad Sci U S A       Date:  2009-09-17       Impact factor: 11.205

5.  Male infertility and its causes in human.

Authors:  Toshinobu Miyamoto; Akira Tsujimura; Yasushi Miyagawa; Eitetsu Koh; Mikio Namiki; Kazuo Sengoku
Journal:  Adv Urol       Date:  2011-10-20

6.  A MEIG1/PACRG complex in the manchette is essential for building the sperm flagella.

Authors:  Wei Li; Waixing Tang; Maria E Teves; Zhengang Zhang; Ling Zhang; Hongfei Li; Kellie J Archer; Darrell L Peterson; David C Williams; Jerome F Strauss; Zhibing Zhang
Journal:  Development       Date:  2015-03-01       Impact factor: 6.868

7.  Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line.

Authors:  Sarah E M Stephenson; Timothy D Aumann; Juliet M Taylor; Jessica R Riseley; Ruili Li; Jeffrey R Mann; Doris Tomas; Paul J Lockhart
Journal:  Sci Rep       Date:  2018-05-14       Impact factor: 4.379

Review 8.  Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic.

Authors:  Miriam Cerván-Martín; José A Castilla; Rogelio J Palomino-Morales; F David Carmona
Journal:  J Clin Med       Date:  2020-01-21       Impact factor: 4.241

  8 in total

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