Recent advance in our understanding of the molecular nature of chromosomal abnormalities.
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.
Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan. kura@fujita-hu.ac.jp
Hiroki
H
Kurahashi
Hasbaira
H
Bolor
Takema
T
Kato
Hiroshi
H
Kogo
Makiko
M
Tsutsumi
Hidehito
H
Inagaki
Tamae
T
Ohye
D002869:Chromosome Aberrations; D020440:Gene Duplication; D015321:Gene Rearrangement / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008540:Meiosis; D014178:Translocation, Genetic