Dear Colleagues,

Chromosomes are a microscopically visible underlying element of genomes. In times of next generation sequencing they have appeared to be in the shadow of modern techniques of molecular genetics. However, only combining the advantages of molecular cytogenetics and any kind of new high throughput approaches can provide a comprehensive view on the studied questions of genome evolution and organization. Here we welcome studies characterizing chromosome and karyotype variation in animals, plants and humans (including constitutional and acquired variations in karyotypes and individual chromosomes).

Intraspecific chromosome and karyotype variation can be involved in generating the biodiversity required for adaptation to the changing environment and introduction into new ecological niches. It promotes reproductive isolation followed by speciation. Studies on comparative genomics have revealed huge intra- and interspecific genome variation including mutations, single nucleotide polymorphisms, and copy number variations. However, we cannot understand the basic principle of genome organization and evolution without intense and ambitious research devoted to the investigation of genomic variations involving large chromosome regions or even the whole chromosomes. The biological and molecular mechanisms underlying chromosome rearrangements, the formation of new chromosomal regions and whole new chromosomes need much more attention. There are already numerous examples of chromosome and karyotype variations as the basis of speciation based on genome rediploidization after a whole genome duplication or burst of mobile element amplification and distribution. In some species, chromosome and karyotype changing appears to be involved in ontogenetic processes showing critical chromosome and karyotype reorganization up to directed chromatin and chromosome elimination. The programmed DNA elimination during ontogenesis is one of intriguing mysteries of modern biology, which could also be partially resolved through new insights through chromosome and karyotype variation studies in animals and plants.

Humans are the most studied species in terms of the characterization of constitutional and acquired chromosomal and subchromosomal changes. Here it is possible to obtain new insights into the biology of karyotype variations based on single case studies as well as systematic ones, collecting patients with similar chromosomal aberrations or heteromorphisms. However, there is still a gap between the description of chromosomal changes and understanding the underlying mechanisms leading to them. Thus, we here also invite submissions about inherited or de novo constitutional eu- or heterochromatic copy number variations or rearrangements, which lead to clinical signs and symptoms where the research community may learn something about the possible reasons leading to these karyotypic variations. This includes chromosomal rearrangements associated with cell malignization including chromothripsis.

This Special Issue “Chromosome and Karyotypic Variation” is devoted to the problems of chromosome and karyotype diversity, and its role and significance in the evolution, ontogenesis, and development of different types of pathologies in humans.

Overall, we kindly invite papers on the following fields:

• Intra- and interspecies chromosome and karyotype variation;
• Karyotype variation in connection with speciation;
• B chromosomes;
• Programed chromatin and chromosome elimination;
• Whole genome duplication and genome rediploidization;
• Chromosome instability;
• Burst of mobile element amplification and distribution;
• Chromosomal rearrangements in cancer;
• Chromosomal diversity in humans;
• Small supernumerary marker chromosomes in humans;
• Pathogenic and neutral chromosomal variants;
• New techniques and methodologies to study chromosome and karyotype variation.

Dr. Nikolay Rubtsov

Dr. Thomas Liehr
Guest Editor

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