NDLI: Tpp1/Acd maintains genomic stability through a complex role in telomere protection

Content Provider	Springer Nature Link
Author	Else, Tobias Theisen, Brian K. Wu, Yipin Hutz, Janna E. Keegan, Catherine E. Hammer, Gary D. Ferguson, David O.
Copyright Year	2007
Abstract	Telomeres serve to protect the ends of chromosomes, and failure to maintain telomeres can lead to dramatic genomic instability. Human TPP1 was identified as a protein which interacts with components of a telomere cap complex, but does not directly bind to telomeric DNA. While biochemical interactions indicate a function in telomere biology, much remains to be learned regarding the roles of TPP1 in vivo. We previously reported the positional cloning of the gene responsible for the adrenocortical dysplasia (acd) mouse phenotype, which revealed a mutation in the mouse homologue encoding TPP1. We find that cells from homozygous acd mice harbor chromosomes fused at telomere sequences, demonstrating a role in telomere protection in vivo. Surprisingly, our studies also reveal fusions and radial structures lacking internal telomere sequences, which are not anticipated from a simple deficiency in telomere protection. Employing spectral karyotyping and telomere FISH in a combined approach, we have uncovered a striking pattern; fusions with telomeric sequences involve nonhomologous chromosomes while those lacking telomeric sequences involve homologues. Together, these studies show that Tpp1/Acd plays a vital role in telomere protection, but likely has additional functions yet to be defined.
Starting Page	1001
Ending Page	1013
Page Count	13
File Format	PDF
ISSN	09673849
Journal	Chromosome Research
Volume Number	15
Issue Number	8
e-ISSN	15736849
Language	English
Publisher	Springer Netherlands
Publisher Date	2008-01-09
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	chromosome fusion fluorescence in-situ hybridization genome instability spectral karyotyping telomere Cell Biology Human Genetics Animal Genetics and Genomics Plant Genetics & Genomics
Content Type	Text
Resource Type	Article
Subject	Genetics

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Tpp1/Acd maintains genomic stability through a complex role in telomere protection