Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis
Open accessAbstract
Adrenocortical dysplasia (acd) is a spontaneous autosomal recessive mouse mutation that exhibits a pleiotropic phenotype with perinatal lethality. Mutant acd embryos have caudal truncation, vertebral segmentation defects, hydronephrosis, and limb hypoplasia, resembling humans with Caudal Regression syndrome. Acd encodes Tpp1, a component of the shelterin complex that maintains telomere integrity, and consequently acd mutant mice have telomere dysfunction and genomic instability. While the association between genomic instability and cancer is well documented, the association between genomic instability and birth defects is unexplored. To determine the relationship between telomere dysfunction and embryonic malformations, we investigated mechanisms leading to the caudal dysgenesis phenotype of acd mutant embryos. We report that the caudal truncation is caused primarily by apoptosis, not altered cell proliferation. We show that the apoptosis and consequent skeletal malformations in acd mutants are dependent upon the p53 pathway by genetic rescue of the limb hypoplasia and vertebral anomalies with p53 null mice. Furthermore, rescue of the acd phenotype by p53 deficiency is a dosage-sensitive process, as acd/acd, p53(-/-) double mutants exhibit preaxial polydactyly. These findings demonstrate that caudal dysgenesis in acd embryos is secondary to p53-dependent apoptosis. Importantly, this study reinforces a significant link between genomic instability and birth defects.
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Disruption of TRF2 in primary human fibroblasts promotes non-reciprocal translocations.
“disruption of TRF2 in primary human fibroblasts has been shown to promote the formation of non-reciprocal translocations (108).”
From Telomeres and telomerase in cancer (2010) · cites this paper as [108]
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- Authors
- Vlangos, C. N., O'Connor, B. C., Morley, M. J., Krause, A. S., Osawa, G. A., & Keegan, C. E.
- Affiliations
- University of Michigan (US)
- Corresponding author
- Keegan, Catherine E.
- ORCID
- Keegan, Catherine E.
- Venue
- Developmental Biology
- Publisher
- Elsevier BV
- Published
- 2009-10
- Volume
- 334
- Issue
- 2
- Pages
- 418-428
- ISSN
- 0012-1606 (ISSN-L)
- PMC
- PMC3298753
- OpenAlex
- W2053549195
- Cited by
- 29
- References
- 63
- Citations by year
- 2026: 1 · 2021: 1 · 2019: 1 · 2018: 3 · 2017: 2 · 2016: 3 · 2015: 3 · 2014: 3 · 2013: 3 · 2012: 2
- FWCI
- 1.99
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Developmental Biology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- The University of Michigan Cancer Center (CA46592)
- Michigan Diabetes Research and Training Center (DK020572)
- NIH (K08-HD42487)
- March of Dimes Basil O'Connor Starter Scholar Research Award (5-FY05-1223)
- March of Dimes Research (1-FY08-431)
- Center for Genetics in Health and Medicine at the University of Michigan
- Topics
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Keywords
- TPP1, shelterin complex, telomere dysfunction, genomic instability, p53-dependent apoptosis, caudal regression syndrome, vertebral segmentation defects, limb hypoplasia, preaxial polydactyly, congenital malformations, mouse mutations
- MeSH terms
- Abnormalities, Multiple, Shelterin Complex, Adrenal Cortex, Adrenal Insufficiency, Animals, Crosses, Genetic, Genes, Recessive, Gestational Age, Hindlimb, Mice, Inbred C57BL, Organ Specificity, Phenotype, Spine, Tail, Genes, p53, Tumor Suppressor Protein p53, Telomere, Apoptosis, Gene Expression Regulation, Developmental, Body Patterning, Telomere-Binding Proteins, Genomic Instability, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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