Literature DB >> 14604827

Slipping while sleeping? Trinucleotide repeat expansions in germ cells.

Christopher E Pearson1.   

Abstract

Trinucleotide expansions cause at least 30 diseases including Huntington's disease (HD). Many are inherited predominantly through paternal transmissions, which are probably the result of germ-cell-specific mutations. A recent study of testicular germ cells in HD patients revealed that expansions occur in diploid cells before the completion of meiosis. Therefore, expansions are not limited to the late-haploid spermatids, in which the genome is 'sleeping'. These results have implications both for research aimed at understanding the transmission of this serious mutation and for developing new therapies for the disease.

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Year:  2003        PMID: 14604827     DOI: 10.1016/j.molmed.2003.09.006

Source DB:  PubMed          Journal:  Trends Mol Med        ISSN: 1471-4914            Impact factor:   11.951


  26 in total

1.  Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats.

Authors:  David Jakubosky; Erin N Smith; Matteo D'Antonio; Marc Jan Bonder; William W Young Greenwald; Agnieszka D'Antonio-Chronowska; Hiroko Matsui; Oliver Stegle; Stephen B Montgomery; Christopher DeBoever; Kelly A Frazer
Journal:  Nat Commun       Date:  2020-06-10       Impact factor: 14.919

Review 2.  The origins of polypeptide domains.

Authors:  Edward E Schmidt; Christopher J Davies
Journal:  Bioessays       Date:  2007-03       Impact factor: 4.345

3.  Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.

Authors:  Sandra Martins; Christopher E Pearson; Paula Coutinho; Sylvie Provost; António Amorim; Marie-Pierre Dubé; Jorge Sequeiros; Guy A Rouleau
Journal:  Hum Genet       Date:  2014-07-16       Impact factor: 4.132

4.  Jump from pre-mutation to pathologic expansion in C9orf72.

Authors:  Zhengrui Xi; Marka van Blitterswijk; Ming Zhang; Philip McGoldrick; Jesse R McLean; Yana Yunusova; Erin Knock; Danielle Moreno; Christine Sato; Paul M McKeever; Raphael Schneider; Julia Keith; Nicolae Petrescu; Paul Fraser; Maria Carmela Tartaglia; Matthew C Baker; Neill R Graff-Radford; Kevin B Boylan; Dennis W Dickson; Ian R Mackenzie; Rosa Rademakers; Janice Robertson; Lorne Zinman; Ekaterina Rogaeva
Journal:  Am J Hum Genet       Date:  2015-05-21       Impact factor: 11.025

Review 5.  Neurotheranostics as personalized medicines.

Authors:  Bhavesh D Kevadiya; Brendan M Ottemann; Midhun Ben Thomas; Insiya Mukadam; Saumya Nigam; JoEllyn McMillan; Santhi Gorantla; Tatiana K Bronich; Benson Edagwa; Howard E Gendelman
Journal:  Adv Drug Deliv Rev       Date:  2018-10-26       Impact factor: 15.470

Review 6.  On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.

Authors:  Alexandra N Khristich; Sergei M Mirkin
Journal:  J Biol Chem       Date:  2020-02-14       Impact factor: 5.157

Review 7.  Repeat instability as the basis for human diseases and as a potential target for therapy.

Authors:  Arturo López Castel; John D Cleary; Christopher E Pearson
Journal:  Nat Rev Mol Cell Biol       Date:  2010-03       Impact factor: 94.444

8.  Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries.

Authors:  James H Sun; Linda Zhou; Daniel J Emerson; Sai A Phyo; Katelyn R Titus; Wanfeng Gong; Thomas G Gilgenast; Jonathan A Beagan; Beverly L Davidson; Flora Tassone; Jennifer E Phillips-Cremins
Journal:  Cell       Date:  2018-08-30       Impact factor: 41.582

9.  Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells.

Authors:  Zhi Yang; Rachel Lau; Julien L Marcadier; David Chitayat; Christopher E Pearson
Journal:  Am J Hum Genet       Date:  2003-10-21       Impact factor: 11.025

10.  Human telomeres that contain (CTAGGG)n repeats show replication dependent instability in somatic cells and the male germline.

Authors:  Aaron Mendez-Bermudez; Mark Hills; Hilda A Pickett; Anh Tuân Phan; Jean-Louis Mergny; Jean-François Riou; Nicola J Royle
Journal:  Nucleic Acids Res       Date:  2009-08-05       Impact factor: 16.971

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