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ATM Gene Ataxia Telangiectasia - Crossref

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Last Updated: 23 April 2022

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Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM

ATM binds DNA and exploits this to purify ATM to near homogeneity. ATM binds preferentially to DNA ends, according to atomic force microscopy results. This property is similar to that shown by the DNA-dependent protein kinase subunit, a phosphatidylinositol 3-kinase family member who works in DNA damage detection in conjunction with Ku's DNA end-binding protein Ku's. These results demonstrate the presence of DNA damage to p53 and other downstream effectors, and support genetic evidence indicating distinct roles for DNA-dependent protein kinase and ATM.

Source link: https://doi.org/10.1073/pnas.96.20.11134


Degeneration of neurons, synapses, and neuropil and glial activation in a murine Atm knockout model of ataxia–telangiectasia

One of the clinical manifestations of ataxia–telangiectasia, a condition caused by mutations in the Atm protein kinase gene, is neural degeneration. These findings are similar to those in patients with ataxia-telangiectasia, indicating that Atm knockout mice are a good model to help clarify the causes underlying neurodegeneration in this condition and the development and testing protocols to palliate and prevent the disease.

Source link: https://doi.org/10.1073/pnas.94.23.12688


Mutation and genomic deletion status of ataxia telangiectasia mutated ( ATM ) and p53 confer specific gene expression profiles in mantle cell lymphoma

Although mantle cell lymphoma frequently harbors inactivated ataxia telangiectasia mutated and p53 alleles, little is known about the phenotypes triggered by these genetic mutations. In a series of cyclin D1-positive MCL cases and closely linked genotype with gene expression profiles and overall survival, we found point mutations and genomic deletions in these genes and correlated genotypes in these genes. In 56% and 26% of the cases investigated, respectively, mutated and/or deleted ATM and p53 alleles were found in 56% and 26% of the cases examined. Although MCL patients with inactive p53 alleles showed a dramatic decline in median overall survival, despite that non-existent ATM status did not account for survival. Nonetheless, specific gene expression signatures indicating the mutation and genomic deletion status of each gene were found in other cases than those seen in wild-type cases. With this knowledge, molecular phenotypes may have new areas of inquiry into ATM operation or may be exploited by the development of specific drugs for MCL cases with p53 aberrations.

Source link: https://doi.org/10.1073/pnas.0510441103


Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated ( ATM ) Gene are Associated with High and Moderate Risks for Multiple Cancers

This report was designed to determine ATM PV cancer risks independent of family history. ATM PV carriers were categorized for family history using multivariable logistic regression, and reported as ORs with 95% confidence intervals. Notably, c. 7271T> G was a greater risk of invasive ductal breast cancer risk than other missense and truncating ATM PVs. ATM PVs are linked to various cancer risks, and, although professional society guidelines state that carriers are eligible for increased breast and pancreatic cancer screening, routine prostate and gastric cancer screening may also be warranted. Prevention Relevance: This report quantified the risks for multiple cancers linked to ATM pathogenic variants independent of family history. These results show that several common variants of breast cancer risk may be higher than previously recognized, and that enhanced surveillance for prostate and gastric cancer may be warranted for manufacturers of ATM pathogenic variants.

Source link: https://doi.org/10.1158/1940-6207.capr-20-0448


Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India

Abstract Germline gene mutations result in phenotypic heterogeneity characterized by a variable degree of disease severity. In 16 unrelated cases, genetic analysis confirmed ATM gene variations. In 80% of cases of T cell lymphopenia among those investigated, lymphopenia was present in 80% of cases. In 3/8 cases, T-cell receptor excision circles were reduced.

Source link: https://doi.org/10.1038/s41598-022-08019-0


A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient

In IVS49, a homozygous c. 7308–15A > G mutation was discovered by sequence analysis of the ATM gene. According to Human Splicing Finder, the mutation could have caused the development of an intronic cryptic acceptor site. For determining splicing pattern, we developed primers for amplification of related exons from cDNA. A 14-nucleotide insertion from intron 49, between exons 49 and 50, resulted in the translation of ATM exons 48 to 50, resulting in premature termination of translation at codon 2439.

Source link: https://doi.org/10.1159/000518629

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions