Genomic and Genetic Definition of a Functional Human Centromere
| Autor: | M. Katharine Rudd, Anne W. Higgins, Huntington F. Willard, Karen M. Gustashaw, Mary G. Schueler |
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| Rok vydání: | 2001 |
| Předmět: |
Chromosomes
Artificial Bacterial X Chromosome Satellite DNA Centromere Restriction Mapping Turner Syndrome DNA Satellite Biology Transfection Chromosomes Artificial Human Cell Line Evolution Molecular Contig Mapping Chromosome Segregation Centromere Protein A Chromosome 19 Chromosome regions Animals Humans Computer Simulation Crossing Over Genetic Phylogeny Repetitive Sequences Nucleic Acid Sequence Deletion Sequence Tagged Sites Chromosomal inversion Genetics Multidisciplinary Base Sequence Models Genetic Chromosome Sequence Analysis DNA Interspersed Repetitive Sequences Evolutionary biology Chromosome 21 |
| Zdroj: | Science. 294:109-115 |
| ISSN: | 1095-9203 0036-8075 |
| Popis: | The definition of centromeres of human chromosomes requires a complete genomic understanding of these regions. Toward this end, we report integration of physical mapping, genetic, and functional approaches, together with sequencing of selected regions, to define the centromere of the human X chromosome and to explore the evolution of sequences responsible for chromosome segregation. The transitional region between expressed sequences on the short arm of the X and the chromosome-specific alpha satellite array DXZ1 spans about 450 kilobases and is satellite-rich. At the junction between this satellite region and canonical DXZ1 repeats, diverged repeat units provide direct evidence of unequal crossover as the homogenizing force of these arrays. Results from deletion analysis of mitotically stable chromosome rearrangements and from a human artificial chromosome assay demonstrate that DXZ1 DNA is sufficient for centromere function. Evolutionary studies indicate that, while alpha satellite DNA present throughout the pericentromeric region of the X chromosome appears to be a descendant of an ancestral primate centromere, the current functional centromere based on DXZ1 sequences is the product of the much more recent concerted evolution of this satellite DNA. |
| Databáze: | OpenAIRE |
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