Literature DB >> 11687794

Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility.

A T Rovio1, D R Marchington, S Donat, H C Schuppe, J Abel, E Fritsche, D J Elliott, P Laippala, A L Ahola, D McNay, R F Harrison, B Hughes, T Barrett, D M Bailey, D Mehmet, A M Jequier, T B Hargreave, S H Kao, J M Cummins, D E Barton, H J Cooke, Y H Wei, L Wichmann, J Poulton, H T Jacobs.   

Abstract

Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat. Analysis of POLG genotypes in different populations identified an association between absence of the common, ten-repeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.

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Year:  2001        PMID: 11687794     DOI: 10.1038/ng759

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  35 in total

Review 1.  Inherited mitochondrial diseases of DNA replication.

Authors:  William C Copeland
Journal:  Annu Rev Med       Date:  2008       Impact factor: 13.739

2.  The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia.

Authors:  A Brusco; C Michielotto; V Gatta; C Foresta; G Matullo; M Zeviani; G Ferrari; E Dragone; G Calabrese; M Rossato; L Stuppia; N Migone
Journal:  J Endocrinol Invest       Date:  2006-01       Impact factor: 4.256

3.  Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.

Authors:  Mohammad Mehdi Heidari; Massoud Houshmand; Saman Hosseinkhani; Shahriar Nafissi; Barbara Scheiber-Mojdehkar; Mehri Khatami
Journal:  Neurol Sci       Date:  2008-11-28       Impact factor: 3.307

Review 4.  The relationship between pluripotency and mitochondrial DNA proliferation during early embryo development and embryonic stem cell differentiation.

Authors:  J M Facucho-Oliveira; J C St John
Journal:  Stem Cell Rev Rep       Date:  2009-04-03       Impact factor: 5.739

5.  Altitude can alter the mtDNA copy number and nDNA integrity in sperm.

Authors:  Yongjun Luo; Weigong Liao; Yu Chen; Jianhua Cui; Fuyu Liu; Chunhua Jiang; Wenxiang Gao; Yuqi Gao
Journal:  J Assist Reprod Genet       Date:  2011-09-10       Impact factor: 3.412

Review 6.  A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART).

Authors:  Eisa Tahmasbpour; Dheepa Balasubramanian; Ashok Agarwal
Journal:  J Assist Reprod Genet       Date:  2014-08-13       Impact factor: 3.412

Review 7.  Inherited mitochondrial genomic instability and chemical exposures.

Authors:  Sherine S L Chan
Journal:  Toxicology       Date:  2017-07-26       Impact factor: 4.221

8.  Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study.

Authors:  Olaf Sunnotel; Laszlo Hiripi; Kevin Lagan; Jennifer R McDaid; Johanny M De León; Yasushi Miyagawa; Hannah Crowe; Soniya Kaluskar; Michael Ward; Catherine Scullion; Alan Campbell; C S Downes; David Hirst; David Barton; Edgar Mocanu; Akira Tsujimura; Marc B Cox; Tracy Robson; Colum P Walsh
Journal:  Reprod Biol Endocrinol       Date:  2010-03-08       Impact factor: 5.211

9.  Epigenetic regulatory mechanisms associated with infertility.

Authors:  Sheroy Minocherhomji; Prochi F Madon; Firuza R Parikh
Journal:  Obstet Gynecol Int       Date:  2010-08-05

10.  Mitochondrial and nuclear genes of mitochondrial components in cancer.

Authors:  E Kirches
Journal:  Curr Genomics       Date:  2009-06       Impact factor: 2.236

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