GeneSet Information

Tier II GS136842 • telomere length QTL 1 (Tlq1, Published QTL Chr 2)

DESCRIPTION:

QTL associated with telomere length QTL 1. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (178840938)

LABEL:

QTL-Tlq1-Mouse-Chr 2

SCORE TYPE:

Binary

DATE ADDED:

2012-04-02

DATE UPDATED:

2024-04-25

SPECIES:

URI:

http://www.informatics.jax.org/searches/accession_report.cgi?id=MGI:1277976

AUTHORS:

Ding H, Schertzer M, Wu X, Gertsenstein M, Selig S, Kammori M, Pourvali R, Poon S, Vulto I, Chavez E, Tam PP, Nagy A, Lansdorp PM

TITLE:

Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein.

JOURNAL:

Cell Jun 2004, Vol 117, pp. 873-86

ABSTRACT:

Little is known about the genes that regulate telomere length diversity between mammalian species. A candidate gene locus was previously mapped to a region on distal mouse Chr 2q. Within this region, we identified a gene similar to the dog-1 DNA helicase-like gene in C. elegans. We cloned this Regulator of telomere length (Rtel) gene and inactivated its expression in mice. Rtel(-/-) mice died between days 10 and 11.5 of gestation with defects in the nervous system, heart, vasculature, and extraembryonic tissues. Rtel(-/-) embryonic stem cells showed telomere loss and displayed many chromosome breaks and fusions upon differentiation in vitro. Crosses of Rtel(+/-) mice with Mus spretus showed that Rtel from the Mus musculus parent is required for telomere elongation of M. spretus chromosomes in F1 cells. We conclude that Rtel is an essential gene that regulates telomere length and prevents genetic instability. PUBMED: 15210109
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Annotation Information

No sequence read archive data associated with this GeneSet.


Social Control, Formal (D012926)
DNA (D004247)
Genes, Essential (D020043)
Chromosome Breakage (D019457)
Mice (D051379)
Chromosomes (D002875)
Embryonic Stem Cells (D053595)
Nervous System (D009420)
Tissues (D014024)
In Vitro (D007176)
Parents (D010290)
Microscopy, Electron, Scanning Transmission (D017348)
Cells (D002477)
Genes, vif (D016341)
Stem Cells (D013234)
Heart (D006321)
Pregnancy (D011247)
Telomere (D016615)
heart (MA:0000072)
nervous system (MA:0000016)
nervous (MP:0008912)
female pregnancy (GO:0007565)
chromosome (GO:0005694)
QTL map (EDAM_data:1860)

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Supported by NIH R01 AA18776 jointly funded by NIAAA and NIDA, and JAX Center for Precision Genetics NIH U54 OD 020351