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Life Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

2004

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University of Massachusetts Medical School

Alleles; Cell Line; Cell Nucleus; Chromosomes, Human, Pair 17; Chromosomes, Human, Pair 4; Fibroblasts; Heterochromatin; Heterozygote; Humans; Image Processing, Computer-Assisted; In Situ Hybridization; Interphase; Muscles; Muscular Dystrophy, Facioscapulohumeral; Mutation; Nuclear Proteins; Protein Structure, Tertiary; Proteins; Telomere

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Full-Text Articles in Life Sciences

The 4q Subtelomere Harboring The Fshd Locus Is Specifically Anchored With Peripheral Heterochromatin Unlike Most Human Telomeres, Rose Tam, Kelly P. Smith, Jeanne B. Lawrence Oct 2004

The 4q Subtelomere Harboring The Fshd Locus Is Specifically Anchored With Peripheral Heterochromatin Unlike Most Human Telomeres, Rose Tam, Kelly P. Smith, Jeanne B. Lawrence

Open Access Articles

This paper investigates the nuclear localization of human telomeres and, specifically, the 4q35 subtelomere mutated in facioscapulohumeral dystrophy (FSHD). FSHD is a common muscular dystrophy that has been linked to contraction of D4Z4 tandem repeats, widely postulated to affect distant gene expression. Most human telomeres, such as 17q and 17p, avoid the nuclear periphery to reside within the internal, euchromatic compartment. In contrast, 4q35 localizes at the peripheral heterochromatin with 4p more internal, generating a reproducible chromosome orientation that we relate to gene expression profiles. Studies of hybrid and translocation cell lines indicate this localization is inherent to the distal ...