Organization and expression of human telomere repeat binding factor genes |
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Authors: | Amy C Young Michelle Chavez Troy A Giambernardi Vicki Mattern John R McGill J Mansel Harris Michael F Sarosdy Parul Patel Alan Y Sakaguchi |
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Institution: | (1) Department of Cellular and Structural Biology, San Antonio Cancer Institute, 78284 San Antonio, Texas;(2) Cancer Therapy and Research Center, San Antonio Cancer Institute, 78284 San Antonio, Texas;(3) Department of Surgery, Division of Urology, University of Texas Health Science Center, 78284 San Antonio, Texas |
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Abstract: | The ends of mammalian chromosomes terminate in structures called telomeres. Recently a human telomere repeat binding factor
(TRF1) that binds the vertebrate TTAGGG telomeric repeat in situ was isolated by Chong et al. (1). TRF1 regulates telomere
length (2), which is often altered in cancer cells. To understand their genetic organization, TRF1 genes were localized to
human chromosomes 13 cen, 21cen, and Xq13 by analysis of human monochromosomal hybrids, and by fluorescent in situ hybridization.
We also confirmed the recent localization of a human TRF1 gene to chromosome 8, and provide evidence that this locus is alternatively
spliced. In contrast to the TRF1 genes on chromosomes 8 and X, the chromosomes 13 and 21 TRF1 genes contained a 60 bp deletion
in the coding region. The results suggest that two distinct forms of TRF1 are expressed and that the TRF1 gene family includes
at least three pseudogenes whose dispersal in the human genome may have occurred via cDNA intermediates. |
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