Subtelomeres: Evolution in the Human Genome

Rudd, M. Katharine

doi:10.1002/9780470015902.a0020840

Encyclopedia of Life Sciences 2007

DOI: 10.1002/9780470015902.a0020840

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Subtelomeres: Evolution in the Human Genome

M. Katharine Rudd

Abstract: Subtelomeres are extremely dynamic regions near the ends of chromosomes, exhibiting increased recombination and variation. Polymorphic duplications within subtelomeres contain genes, making subtelomeres a source of phenotypic diversity and disease.

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2011

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

Luo¹,

Hermetz²,

Jackson³

et al. 2011

Human Molecular Genetics

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Chromosome rearrangements are a significant cause of intellectual disability and birth defects. Subtelomeric rearrangements, including deletions, duplications and translocations of chromosome ends, were first discovered over 40 years ago and are now recognized as being responsible for several genetic syndromes. Unlike the deletions and duplications that cause some genomic disorders, subtelomeric rearrangements do not typically have recurrent breakpoints and involve many different chromosome ends. To capture the molecular mechanisms responsible for this heterogeneous class of chromosome abnormality, we coupled high-resolution array CGH with breakpoint junction sequencing of a diverse collection of subtelomeric rearrangements. We analyzed 102 breakpoints corresponding to 78 rearrangements involving 28 chromosome ends. Sequencing 21 breakpoint junctions revealed signatures of non-homologous end-joining, non-allelic homologous recombination between interspersed repeats and DNA replication processes. Thus, subtelomeric rearrangements arise from diverse mutational mechanisms. In addition, we find hotspots of subtelomeric breakage at the end of chromosomes 9q and 22q; these sites may correspond to genomic regions that are particularly susceptible to double-strand breaks. Finally, fine-mapping the smallest subtelomeric rearrangements has narrowed the critical regions for some chromosomal disorders.

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

Luo¹,

Hermetz²,

Jackson³

et al. 2011

Human Molecular Genetics

View full text Add to dashboard Cite

show abstract

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Subtelomeres: Evolution in the Human Genome

Abstract: Subtelomeres are extremely dynamic regions near the ends of chromosomes, exhibiting increased recombination and variation. Polymorphic duplications within subtelomeres contain genes, making subtelomeres a source of phenotypic diversity and disease.

Cited by 1 publication

References 47 publications

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

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