Human subtelomere structure and variation

H. Riethman; A. Ambrosini; S. Paul

doi:10.1007/s10577-005-0998-1

Human subtelomere structure and variation

H. Riethman, A. Ambrosini, S. Paul

Research output: Contribution to journal › Review article › peer-review

95 Scopus citations

Abstract

Work towards completion of the human reference genome sequence has revealed a great deal of complexity and plasticity in human subtelomeric regions. The highly variable subtelomeric repeat regions are filled with recently shuffled genomic segments, many of which contain sequences matching transcripts and transcript fragments; the rapid duplication and combinatorial evolution of these regions has generated an extremely diverse set of subtelomeric alleles in the human species, the complexity and potential significance of which is only beginning to be understood. This review summarizes recent progress in analyzing human subtelomeric sequence assemblies and large-scale variation in human subtelomere regions.

Original language	English (US)
Pages (from-to)	505-515
Number of pages	11
Journal	Chromosome Research
Volume	13
Issue number	5
DOIs	https://doi.org/10.1007/s10577-005-0998-1
State	Published - Jul 2005
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics

Keywords

Human
Segmental duplication
Subtelomeric repeat
Telomere
Telomereic alleles

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10.1007/s10577-005-0998-1

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title = "Human subtelomere structure and variation",

abstract = "Work towards completion of the human reference genome sequence has revealed a great deal of complexity and plasticity in human subtelomeric regions. The highly variable subtelomeric repeat regions are filled with recently shuffled genomic segments, many of which contain sequences matching transcripts and transcript fragments; the rapid duplication and combinatorial evolution of these regions has generated an extremely diverse set of subtelomeric alleles in the human species, the complexity and potential significance of which is only beginning to be understood. This review summarizes recent progress in analyzing human subtelomeric sequence assemblies and large-scale variation in human subtelomere regions.",

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AU - Ambrosini, A.

AU - Paul, S.

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N2 - Work towards completion of the human reference genome sequence has revealed a great deal of complexity and plasticity in human subtelomeric regions. The highly variable subtelomeric repeat regions are filled with recently shuffled genomic segments, many of which contain sequences matching transcripts and transcript fragments; the rapid duplication and combinatorial evolution of these regions has generated an extremely diverse set of subtelomeric alleles in the human species, the complexity and potential significance of which is only beginning to be understood. This review summarizes recent progress in analyzing human subtelomeric sequence assemblies and large-scale variation in human subtelomere regions.

AB - Work towards completion of the human reference genome sequence has revealed a great deal of complexity and plasticity in human subtelomeric regions. The highly variable subtelomeric repeat regions are filled with recently shuffled genomic segments, many of which contain sequences matching transcripts and transcript fragments; the rapid duplication and combinatorial evolution of these regions has generated an extremely diverse set of subtelomeric alleles in the human species, the complexity and potential significance of which is only beginning to be understood. This review summarizes recent progress in analyzing human subtelomeric sequence assemblies and large-scale variation in human subtelomere regions.

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KW - Segmental duplication

KW - Subtelomeric repeat

KW - Telomere

KW - Telomereic alleles

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Human subtelomere structure and variation

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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