Mutation analysis of the AATF gene in breast cancer families

Haanpää, Maria K.; Reiman, Mervi; Nikkilä, Jenni; Erkko, Hannele; Pylkäs, Katri; Winqvist, Robert

doi:10.1186/1471-2407-9-457

Cited by 12 publications

(10 citation statements)

References 23 publications

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“…Gh_A13G0332 , an orthologous gene to AT5G61330 in Arabidopsis , encodes apoptosis‐antagonizing transcription factor (AATF) and was designated as GhAATF1 . It has been reported that AATF genes play important roles in the regulation of gene transcription and cell proliferation (Haanpaa et al , ; Sharma, ). The GhAATF1 protein contains the AATF (PF13339) domain from amino acid 118 to 252 at the N‐terminal and the AATF (PF08164) domain from 331 to 406 amino acid in the C‐terminal.…”

Section: Resultsmentioning

confidence: 99%

Genomic signatures and candidate genes of lint yield and fibre quality improvement in Upland cotton in Xinjiang

Han

Qin

et al. 2020

Plant Biotechnology Journal

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Summary Xinjiang has been the largest and highest yield cotton production region not only in China, but also in the world. Improvements in Upland cotton cultivars in Xinjiang have occurred via pedigree selection and/or crossing of elite alleles from the former Soviet Union and other cotton producing regions of China. But it is unclear how genomic constitutions from foundation parents have been selected and inherited. Here, we deep‐sequenced seven historic foundation parents, comprising four cultivars introduced from the former Soviet Union (108Ф, C1470, 611Б and KK1543) and three from United States and Africa (DPL15, STV2B and UGDM), and re‐sequenced sixty‐nine Xinjiang modern cultivars. Phylogenetic analysis of more than 2 million high‐quality single nucleotide polymorphisms allowed their classification two groups, suggesting that Xinjiang Upland cotton cultivars were not only spawned from 108Ф, C1470, 611Б and KK1543, but also had a close kinship with DPL15, STV2B and UGDM. Notably, identity‐by‐descent (IBD) tracking demonstrated that the former Soviet Union cultivars have made a huge contribution to modern cultivar improvement in Xinjiang. A total of 156 selective sweeps were identified. Among them, apoptosis‐antagonizing transcription factor gene (GhAATF1) and mitochondrial transcription termination factor family protein gene (GhmTERF1) were highly involved in the determination of lint percentage. Additionally, the auxin response factor gene (GhARF3) located in inherited IBD segments from 108Ф and 611Б was highly correlated with fibre quality. These results provide an insight into the genomics of artificial selection for improving cotton production and facilitate next‐generation precision breeding of cotton and other crops.

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Section: Resultsmentioning

confidence: 99%

Genomic signatures and candidate genes of lint yield and fibre quality improvement in Upland cotton in Xinjiang

Han

Qin

et al. 2020

Plant Biotechnology Journal

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“…Moreover, Che-1/AATF deeply affects the activity of p53, by both modulating wild type p53 target specificity and supporting the “gain of function” of the mutated forms of this oncosuppressor ( Bruno et al, 2010 ; Desantis et al, 2015a ). However, a screening for Che-1/AATF mutations in 121 breast cancer families has highlighted that no mutations in Che-1/AATF coding sequence can be associated with cancer predisposition ( Haanpää et al, 2009 ). On the other hand, several studies suggest that dysregulation in Che-1/AATF level inside cells could be relevant for the transformation process.…”

Section: Che-1/aatf As a Putative Therapeutic Target In Cancermentioning

confidence: 99%

Discovering Che-1/AATF: a new attractive target for cancer therapy

Iezzi¹,

Fanciulli²

2015

Front. Genet.

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The transcriptional cofactor Che-1/AATF is currently emerging as an important component of the DNA damage response (DDR) machinery, the complex signaling network that maintains genome integrity and prevents tumorigenesis. Moreover this protein is involved in a wide range of cellular pathways, regulating proliferation and survival in both physiological and pathological conditions. Notably, some evidence indicates that dysregulation of Che-1/AATF levels are associated with the transformation process and elevated levels of Che-1/AATF are required for tumor cell survival. It is for these reasons that Che-1/AATF has been regarded as an attractive, still theoretical, therapeutic target for cancer treatments. In this review, we will provide an updated overview of Che-1/AATF activities, from transcriptional regulation to DDR.

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“…Mutational analysis of AATF carried out in breast cancer cells showed no significant involvement of AATF in breast cancer predisposition (Haanpää et al, 2009). However years later, a study conducted by siRNA mediated AATF gene silencing revealed stimulation of apoptotic cell death in breast cancer cells via upregulation of proapoptotic genes.…”

Section: Aatf and Cancermentioning

confidence: 99%

Emerging roles of AATF: Checkpoint signaling and beyond

Srinivas

Suresh

Mirshahi

et al. 2020

Journal Cellular Physiology

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Apoptosis antagonizing transcription factor (AATF), an interacting partner of RNA polymerase II is a multifunctional protein that is highly conserved in eukaryotes. In addition to the regulation of gene expression as a transcriptional coactivator, AATF is shown to play a dual role in regulating the cell cycle by displacing histone deacetylases 1 (HDAC1) from the retinoblastoma‐E2F transcription factor (Rb‐E2F) complex and also from the specificity protein 1 (Sp1) transcription factor responsible for p21 expression, thereby ensuring cell proliferation and growth arrest, respectively, at different checkpoints of the cell cycle. Notably, AATF has emerged as one of the most important modulators of various cellular responses such as proliferation, apoptosis, and survival. Studies have demonstrated that AATF protects cells from multiple stress stimuli such as DNA damage, ER stress, hypoxia, or glucose deprivation by inducing cell cycle arrest, autophagy, or apoptosis inhibition. Furthermore, AATF serves as a critical regulator in various cancers and promotes tumorigenesis by protecting cancer cells from apoptosis induction, favoring cell proliferation, or promoting cell survival by autophagy. Recent studies have demonstrated the key role of AATF in ribosome biosynthesis and have also provided insights into the mechanistic role of AATF, offering impressive cytoprotection in myocardial infarction, neurologic diseases, and nephronophthisis. In this review, we will provide a comprehensive overview of the role of AATF and shed light on its emerging roles underlining the potential use of AATF as a novel biomarker and as an effective therapeutic target.

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Mutation analysis of the AATF gene in breast cancer families

Cited by 12 publications

References 23 publications

Genomic signatures and candidate genes of lint yield and fibre quality improvement in Upland cotton in Xinjiang

Genomic signatures and candidate genes of lint yield and fibre quality improvement in Upland cotton in Xinjiang

Discovering Che-1/AATF: a new attractive target for cancer therapy

Emerging roles of AATF: Checkpoint signaling and beyond

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