Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome

Telomeres repress the DNA damage response at the natural chromosome ends to prevent cell-cycle arrest and maintain genome stability. Telomeres are elongated by telomerase in a tightly regulated manner to ensure a sufficient number of cell divisions throughout life, yet prevent unlimited cell divisio...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2013-09, Vol.110 (36), p.14518-14518
Hauptverfasser:	Deng, Zhong, Glousker, Galina, Molczan, Aliah, Fox, Alan J., Lamm, Noa, Dheekollu, Jayaraju, Weizman, Orr-El, Schertzer, Michael, Wang, Zhuo, Vladimirova, Olga, Schug, Jonathan, Aker, Memet, Londoño-Vallejo, Arturo, Kaestner, Klaus H., Lieberman, Paul M., Tzfati, Yehuda
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Base Sequence Binding sites Biological Sciences Blotting, Western Cell division Cell Proliferation Cells, Cultured DNA damage DNA Helicases - genetics DNA Helicases - metabolism Dyskeratosis Congenita - genetics Dyskeratosis Congenita - metabolism Dyskeratosis Congenita - pathology Enzymes Family Health Female Fetal Growth Retardation - genetics Fetal Growth Retardation - metabolism Fetal Growth Retardation - pathology Gene Expression Genomic Instability - genetics Genomics HeLa Cells Humans In Situ Hybridization, Fluorescence Intellectual Disability - genetics Intellectual Disability - metabolism Intellectual Disability - pathology Male Mice Microcephaly - genetics Microcephaly - metabolism Microcephaly - pathology Mutation Pedigree PNAS Plus PNAS PLUS: Significance Statements Reverse Transcriptase Polymerase Chain Reaction Telomere - genetics Telomere Shortening - genetics Telomeric Repeat Binding Protein 1 - genetics Telomeric Repeat Binding Protein 1 - metabolism
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