| First Author | Karlseder J | Year | 2003 |
| Journal | Mol Cell Biol | Volume | 23 |
| Issue | 18 | Pages | 6533-41 |
| PubMed ID | 12944479 | Mgi Jnum | J:85440 |
| Mgi Id | MGI:2675190 | Doi | 10.1128/MCB.23.18.6533-6541.2003 |
| Citation | Karlseder J, et al. (2003) Targeted deletion reveals an essential function for the telomere length regulator Trf1. Mol Cell Biol 23(18):6533-41 |
| abstractText | The human telomeric DNA binding factor TRF1 (hTRF1) and its interacting proteins TIN2, tankyrase 1 and 2, and PINX1 have been implicated in the regulation of telomerase-dependent telomere length maintenance. Here we show that targeted deletion of exon 1 of the mouse gene encoding Trf1 causes early (day 5 to 6 postcoitus) embryonic lethality. The absence of telomerase did not alter the Terf1(ex1Delta/ex1Delta) lethality, indicating that the phenotype was not due to inappropriate telomere elongation by telomerase. Terf1(ex1Delta/ex1Delta) blastocysts had a severe growth defect of the inner cell mass that was accompanied by apoptosis. However, no evidence was found for telomere uncapping causing this cell death; chromosome spreads of Terf1(ex1Delta/ex1Delta) blastocysts did not reveal chromosome end-to-end fusions, and p53 deficiency only briefly delayed Terf1(ex1Delta/ex1Delta) lethality. These data suggest that murine Trf1 has an essential function that is independent of telomere length regulation. |
