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2012 (4)

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Identification de gènes impliqués dans de nouvelles translocations chromosomiques chez des patients atteints de tumeurs d'origine mésenchymateuse difficiles à caractériser au niveau morphologique

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Chromosome abnormalities and genetic counseling.
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ISBN: 9780195375336 Year: 2012 Publisher: Oxford Oxford university press

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Small supernumerary marker chromosomes (sSMC) : a guide for human geneticists and clinicians
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ISBN: 3642207650 9786613449153 1283449153 3642207669 Year: 2012 Publisher: New York : Springer,

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Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.


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Polyploidy and genome evolution
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ISBN: 9783642314421 9783642314414 3642314414 3642432816 3642314422 1283697572 Year: 2012 Publisher: New York : Springer,

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Polyploidy – whole-genome duplication (WGD) – is a fundamental driver of biodiversity with significant consequences for genome structure, organization, and evolution.  Once considered a speciation process common only in plants, polyploidy is now recognized to have played a major role in the structure, gene content, and evolution of most eukaryotic genomes.  In fact, the diversity of eukaryotes seems closely tied to multiple WGDs. Polyploidy generates new genomic interactions – initially resulting in “genomic and transcriptomic shock” – that must be resolved in a new polyploid lineage.  This process essentially acts as a “reset” button, resulting in genomic changes that may ultimately promote adaptive speciation.   This book brings together for the first time the conceptual and theoretical underpinnings of polyploid genome evolution with syntheses of the patterns and processes of genome evolution in diverse polyploid groups.  Because polyploidy is most common and best studied in plants, the book emphasizes plant models, but recent studies of vertebrates and fungi are providing fresh perspectives on factors that allow polyploid speciation and shape polyploid genomes.  The emerging paradigm is that polyploidy – through alterations in genome structure and gene regulation – generates genetic and phenotypic novelty that manifests itself at the chromosomal, physiological, and organismal levels, with long-term ecological and evolutionary consequences.

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