Open Access Medical Books



Edited by Zuzana Storchova .

256 pages . 
Open Access .

Genetic information is physically carried on large DNA strings that are organized into chromosomes. Each species is characterized by a chromosome set that carry the information necessary and sufficient for its development and survival. Eukaryotic organisms are mostly diploid, containing two sets of chromosomes with each pair carrying nearly identical genetic information. Occasionally, exceptions to this rule are found, such as haploid yeast (with only one set of chromosomes) or polyploid ferns and frogs (with multiple sets). Nevertheless, the composition of chromosome set remains identical within a species.
Aneuploidy describes exceptions from this rule. Some organisms or individual cells might contain an extra chromosome or two, some might have lost a chromosome arm.
These alterations might be rare in normal, healthy organisms, but are often found under pathological conditions. Years of research uncovered a multitude of mechanisms and defects in cellular pathways that can lead to aneuploidy, and the list is still growing. Recent analysis shed first light on the effects that aneuploidy instigates upon cells. Only slowly we start to untangle the intricate relationship between chromosome numbers and structure and cell physiology.
Part of the urge to study aneuploidy is triggered by the clear association of aneuploidy with various pathologies. In humans, aneuploidy is the most frequent cause of spontaneous abortions as it severely impairs embryo development. A handful of aneuploidies compatible with survival leads to newborns with variable handicaps and a limited life span. The majority of malignant tumors consists of cells with an aneuploid karyotype. The relationship of tumorigenesis and aneuploidy remains enigmatic despite growing scientific interest. Recently, novel observations suggest that aging and, in particular, neurodegeneration might be associated with aneuploidy as well.
Aneuploidy means anything that is not euploid, anything that stands outside the norm. Thus, aneuploidy takes numerous variable features and is remarkably demanding to study. Two particular characteristics make the studies of aneuploidy challenging. First, it is often hard to distinguish what is a cause and what is a consequence. Was aneuploidy first and then the pathological conditions came? Or is aneuploidy itself a consequence of a gene mutation or other cellular changes? The progress in long term imaging techniques as well as the techniques enabling to generate artificially aneuploid cells expand our experimental tools to address these questions. Secondly, aneuploidy is often associated with chromosomal instability, a persistent defect of the cellular ability to equally distribute genetic information into daughter cells. Thus, working with aneuploid, chromosomally unstable cells means to analyze an ever changing creature and capture the features that persist. The hopes are high that new genome-wide systems biology approaches will help to identify the patterns shared among aneuploid cells and organisms.
This book attempts to map our current knowledge on aneuploidy from the basic research view on the causes and consequences of aneuploidy, covered in Part I, to the medical relevance of aneuploidy in cancer research, reproductive biology and stem cell research, which is addressed in Part II. The multitude of covered topics reflects the variability of aneuploid cells as well as the broad extent of methods applied in aneuploidy research. I would like to thank the authors for the broad and at the same time deep review of their topics, and the editors for the support that enabled to produce the book in your hands.

Dr. Zuzana Storchová
Max Planck Institute of Biochemistry
Martinsried, Germany


Section 1 of the textbook : Causes and Consequences of Aneuploidy .

1 The Causes and Consequences 
of Aneuploidy in Eukaryotic Cells 3
Zuzana Storchova

2 Uncover Cancer Genomics by Jointly 
Analysing Aneuploidy and Gene Expression 23
Lingling Zheng and Joseph Lucas

3 Sister Chromatid Cohesion and Aneuploidy 41
Erwan Watrin and Claude Prigent

4 Mouse Models for Chromosomal Instability 59
Floris Foijer

Section 2 of the textbook : The Impact of Aneuploidy on Human Health .

5 Aneuploidy and Epithelial Cancers: The Impact 
of Aneuploidy on the Genesis, Progression and Prognosis of Colorectal and Breast Carcinomas 81
Jens K. Habermann, Gert Auer, Madhvi Upender, Timo Gemoll, Hans-Peter Bruch, Hans Jörnvall, Uwe J. Roblick and Thomas Ried

6 Aneuploidy and Intellectual Disability 107
Daisuke Fukushi, Seiji Mizuno, Kenichiro Yamada, Reiko Kimura, Yasukazu Yamada, Toshiyuki Kumagai and Nobuaki Wakamatsu

7 Sex Chromosome Aneuploidies 123
Eliona Demaliaj, Albana Cerekja and Juan Piazze

8 Human Male Meiosis and Sperm Aneuploidies 141
María Vera, Vanessa Peinado, Nasser Al-Asmar, Jennifer Gruhn, Lorena Rodrigo, Terry Hassold and Carmen Rubio

9 Morphology and Aneuploidy of in vitro Matured (IVM) Human Oocytes 163
Lidija Križančić Bombek, Borut Kovačič and Veljko Vlaisavljević

10 Comparing Pig and Amphibian Oocytes: Methodologies for Aneuploidy Detection and Complementary Lessons for MAPK Involvement in Meiotic Spindle Morphogenesis 193
Michal Ješeta and Jean-François L. Bodart

11 The Role of Aneuploidy Screening in 
Human Preimplantation Embryos 217
Christian S. Ottolini, Darren K. Griffin and Alan R. Thornhill .

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Published by: Unknown - Monday, March 11, 2013


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