Literature DB >> 19373258

Recent advance in our understanding of the molecular nature of chromosomal abnormalities.

Hiroki Kurahashi1, Hasbaira Bolor, Takema Kato, Hiroshi Kogo, Makiko Tsutsumi, Hidehito Inagaki, Tamae Ohye.   

Abstract

The completion of the human genome project has enabled researchers to characterize the breakpoints for various chromosomal structural abnormalities including deletions, duplications or translocations. This in turn has shed new light on the molecular mechanisms underlying the onset of gross chromosomal rearrangements. On the other hand, advances in genetic manipulation technologies for various model organisms has increased our knowledge of meiotic chromosome segregation, errors which, contribute to chromosomal aneuploidy. This review focuses on the current understanding of germ line chromosomal abnormalities and provides an overview of the mechanisms involved. We refer to our own recent data and those of others to illustrate some of the new paradigms that have arisen in this field. We also discuss some perspectives on the sexual dimorphism of some of the pathways that leads to these chromosomal abnormalities.

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Year:  2009        PMID: 19373258     DOI: 10.1038/jhg.2009.35

Source DB:  PubMed          Journal:  J Hum Genet        ISSN: 1434-5161            Impact factor:   3.172


  15 in total

Review 1.  The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.

Authors:  H Kurahashi; H Inagaki; T Ohye; H Kogo; M Tsutsumi; T Kato; M Tong; B S Emanuel
Journal:  Clin Genet       Date:  2010-10       Impact factor: 4.438

2.  Advanced age increases chromosome structural abnormalities in human spermatozoa.

Authors:  Cristina Templado; Anna Donate; Jesús Giraldo; Mercè Bosch; Anna Estop
Journal:  Eur J Hum Genet       Date:  2010-11-03       Impact factor: 4.246

3.  Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction.

Authors:  Keiko Wakui
Journal:  J Hum Genet       Date:  2014-10-09       Impact factor: 3.172

Review 4.  Preimplantation genetic diagnosis/screening by comprehensive molecular testing.

Authors:  Hiroki Kurahashi; Takema Kato; Jun Miyazaki; Haruki Nishizawa; Eiji Nishio; Hiroshi Furukawa; Hironori Miyamura; Mayuko Ito; Toshiaki Endo; Yuya Ouchi; Hidehito Inagaki; Takuma Fujii
Journal:  Reprod Med Biol       Date:  2015-07-14

Review 5.  Genomic Changes in Normal Breast Tissue in Women at Normal Risk or at High Risk for Breast Cancer.

Authors:  David N Danforth
Journal:  Breast Cancer (Auckl)       Date:  2016-08-17

Review 6.  Advanced Paternal Age and Future Generations.

Authors:  Peter T K Chan; Bernard Robaire
Journal:  Front Endocrinol (Lausanne)       Date:  2022-06-09       Impact factor: 6.055

7.  Signature of backward replication slippage at the copy number variation junction.

Authors:  Tamae Ohye; Hidehito Inagaki; Mamoru Ozaki; Toshiro Ikeda; Hiroki Kurahashi
Journal:  J Hum Genet       Date:  2014-03-20       Impact factor: 3.172

8.  DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.

Authors:  Takema Kato; Hidehito Inagaki; Maoqing Tong; Hiroshi Kogo; Tamae Ohye; Kouji Yamada; Makiko Tsutsumi; Beverly S Emanuel; Hiroki Kurahashi
Journal:  Mol Cytogenet       Date:  2011-09-08       Impact factor: 2.009

9.  Caenorhabditis elegans histone methyltransferase MET-2 shields the male X chromosome from checkpoint machinery and mediates meiotic sex chromosome inactivation.

Authors:  Paula M Checchi; JoAnne Engebrecht
Journal:  PLoS Genet       Date:  2011-09-01       Impact factor: 5.917

10.  Failure of homologous synapsis and sex-specific reproduction problems.

Authors:  Hiroki Kurahashi; Hiroshi Kogo; Makiko Tsutsumi; Hidehito Inagaki; Tamae Ohye
Journal:  Front Genet       Date:  2012-06-18       Impact factor: 4.599

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