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- W2800154328 abstract "ARP-T1 (Actin-Related Protein-Testis 1) is encoded by the ACTRT1 gene, and mutations in this gene cause Bazex-Dupré-Christol Syndrome (BDCS) associated with Basal Cell Cancer (BCC). Unlike most cases of BCC, BDCS is a dominantly X-linked inherited syndromic form of BCC. The insertion mutation ARP-T1 547_548InsA creating a shift of the reading frame resulting in a truncated protein of 198 amino acids segregates with the disease, and germline mutations of non-coding sequences surrounding ACTRT1 were identified and postulated to belong to enhancers transcribed as non-coding RNAs (eRNAs). ARP-T1 plays a role as a tumor suppressor in BDCS ( Bal et al., 2017 ). We employed mass spectrometry analysis to find ARP-T1 interacting proteins in HeLa cells, normal human epidermal keratinocytes and ciliated differentiated serum starved hTERT-RPE1 cells and found several proteins known to be involved in ciliogenesis - Acetylated Tubulin, TCP8, Hsc70, BAG2, EHD4, EHD2, Rab8A, Septin2, Septin9, Gamma Tubulin. We found that ARP-T1 is expressed not only in testis but also in human hair follicles and in ciliated differentiated cells, and confirmed that ARP-T1 localizes at the basal body of primary cilia. ARP-T1 co-localizes with Rootletin, a major basal body protein, and forms a complex with Gamma Tubulin, which localizes in vicinity of the basal body. Tissue samples from BDCS patients show reduced ciliary length and ARP-T1 expression when compared to normal hair follicles with significant correlations between ARP-T1 expression levels and ciliary length. ACTRT1 knock down confirmed that ARP-T1 was a direct cause to reduced ciliary length. We report that BDCS is a novel ciliopathy and the first case of a skin cancer ciliopathy, where ARP-T1 plays a critical role to prevent pathogenesis. How ARP-T1 interacts with proteins in ciliary machinery to regulate ciliogenesis linked to the actin network will be discussed." @default.
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- W2800154328 date "2018-05-01" @default.
- W2800154328 modified "2023-10-10" @default.
- W2800154328 title "205 ARP-T1 is a protein associated with a novel ciliopathy in inherited basal cell cancer of Bazex-Dupré-Christol Syndrome" @default.
- W2800154328 doi "https://doi.org/10.1016/j.jid.2018.03.210" @default.
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