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

研究成果: Review article査読

30 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)253-260
ページ数8
ジャーナルJournal of Human Genetics
54
5
DOI
出版ステータスPublished - 05-2009

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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