A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis

Izumiyama, Tomohiro; Minoshima, Shinsei; Yoshida, Tetsuhiko; Shimizu, Nobuyoshi

doi:10.1016/j.gene.2012.09.061

Cited by 19 publications

(19 citation statements)

References 59 publications

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“…We observed low frequency (3%) somatic mutations in genes originally identified by Royer-Bertrand et al (6%), namely in TTC28, CSMD1, KTN1 and TP53BP1 [14]. Most of these genes are involved in various cellular processes, e.g., cell cycle regulation [40], cell migration and proliferation [41,42], kinesin binding [43] and DNA double-strand break repair [44]. Our NGS panel was custom-designed to have full coverage of the TTC28, CSMD1, KTN1 and TP53BP1 genes, and because of its targeted nature had greater coverage in comparison to whole-exome sequencing methodologies.…”

Section: Other Mutationsmentioning

confidence: 52%

Targeted Next-Generation Sequencing of 117 Routine Clinical Samples Provides Further Insights into the Molecular Landscape of Uveal Melanoma

Thornton

Coupland

Olohan

et al. 2020

Cancers

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Uveal melanoma (UM) has well-characterised somatic copy number alterations (SCNA) in chromosomes 1, 3, 6 and 8, in addition to mutations in GNAQ, GNA11, CYSLTR2, PLCB4, BAP1, SF3B1 and EIF1AX, most being linked to metastatic-risk. To gain further insight into the molecular landscape of UM, we designed a targeted next-generation sequencing (NGS) panel to detect SCNA and mutations in routine clinical UM samples. We compared hybrid-capture and amplicon-based target enrichment methods and tested a larger cohort of primary UM samples on the best performing panel. UM clinical samples processed either as fresh-frozen, formalin-fixed paraffin embedded (FFPE), small intraocular biopsies or following irradiation were successfully profiled using NGS, with hybrid capture outperforming the PCR-based enrichment methodology. We identified monosomy 3 (M3)-UM that were wild-type for BAP1 but harbored SF3B1 mutations, novel frameshift deletions in SF3B1 and EIF1AX, as well as a PLCB4 mutation outside of the hotspot on exon 20 coinciding with a GNAQ mutation in some UM. We observed samples that harboured mutations in both BAP1 and SF3B1, and SF3B1 and EIF1AX, respectively. Novel mutations were also identified in TTC28, KTN1, CSMD1 and TP53BP1. NGS can simultaneously assess SCNA and mutation data in UM, in a reliable and reproducible way, irrespective of sample type or previous processing. BAP1 and SF3B1 mutations, in addition to 8q copy number, are of added importance when determining UM patient outcome.

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Section: Other Mutationsmentioning

confidence: 52%

Targeted Next-Generation Sequencing of 117 Routine Clinical Samples Provides Further Insights into the Molecular Landscape of Uveal Melanoma

Thornton

Coupland

Olohan

et al. 2020

Cancers

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“…De novo missense variants were identified in TTC28 (tetratricopeptide repeat domain 28) and RIMKLA (ribosomal modification protein rimK‐like family member A; also known as N ‐acetylaspartylglutamate synthase II). TTC28 is involved in condensation of spindle midzone microtubules, formation of the midbody, and completion of cytokinesis in COS‐7 and HeLa cells and has low expression in the heart (left ventricle: 1.732 RPKM (reads per kilobase of sequence per million reads mapping to transcribed RNAs); highest expression: ovary, 9.205 RPKM) . The identified c.4062C>A, p.N1354K missense variant (NM_001145418.1) does not fall within a known functional domain, and in silico tools did not predict a deleterious effect (SIFT: 0.12=tolerated, PolyPhen2: 0.223=benign) .…”

Section: Resultsmentioning

confidence: 99%

Pediatric Dilated Cardiomyopathy‐Associated LRRC10 (Leucine‐Rich Repeat–Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L‐Type Ca ²⁺ Channels

Woon

Long

Reilly

et al. 2018

JAHA

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BackgroundGenetic causes of dilated cardiomyopathy (DCM) are incompletely understood. LRRC10 (leucine‐rich repeat–containing 10) is a cardiac‐specific protein of unknown function. Heterozygous mutations in LRRC10 have been suggested to cause DCM, and deletion of Lrrc10 in mice results in DCM.Methods and ResultsWhole‐exome sequencing was carried out on a patient who presented at 6 weeks of age with DCM and her unaffected parents, filtering for rare, deleterious, recessive, and de novo variants. Whole‐exome sequencing followed by trio‐based filtering identified a homozygous recessive variant in LRRC10, I195T. Coexpression of I195T LRRC10 with the L‐type Ca2+ channel (Cav1.2, β2CN2, and α2δ subunits) in HEK293 cells resulted in a significant ≈0.5‐fold decrease in ICa,L at 0 mV, in contrast to the ≈1.4‐fold increase in ICa,L by coexpression of LRRC10 (n=9–12, P<0.05). Coexpression of LRRC10 or I195T LRRC10 did not alter the surface membrane expression of Cav1.2. LRRC10 coexpression with Cav1.2 in the absence of auxiliary β2CN2 and α2δ subunits revealed coassociation of Cav1.2 and LRRC10 and a hyperpolarizing shift in the voltage dependence of activation (n=6–9, P<0.05). Ventricular myocytes from Lrrc10 −/− mice had significantly smaller ICa,L, and coimmunoprecipitation experiments confirmed association between LRRC10 and the Cav1.2 subunit in mouse hearts.ConclusionsExamination of a patient with DCM revealed homozygosity for a previously unreported LRRC10 variant: I195T. Wild‐type and I195T LRRC10 function as cardiac‐specific subunits of L‐type Ca2+ channels and exert dramatically different effects on channel gating, providing a potential link to DCM.

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“…TPR-containing proteins have been reported to regulate mRNA metabolism ( 23 – 25 ). We hypothesized that BSR-K1, containing TPRs, may associate selectively with specific RNA transcripts.…”

Section: Resultsmentioning

confidence: 99%

“…TPR-containing proteins are involved in the regulation of RNA metabolism in various organisms ( 23 – 25 ). Our results demonstrate that the BSR-K1 protein regulates mRNA turnover of multiple OsPAL genes ( Fig.…”

Section: Discussionmentioning

confidence: 99%

Loss of function of a rice TPR-domain RNA-binding protein confers broad-spectrum disease resistance

Zhao

Liao

Chern

et al. 2018

Proc. Natl. Acad. Sci. U.S.A.

190

116

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SignificanceCrops carrying broad-spectrum resistance loci provide an effective strategy for controlling infectious disease. Despite their importance, few broad-spectrum resistance loci have been reported, and the underlying mechanisms controlling the trait remain largely unknown. This report describes the identification of a gene, called “bsr-k1,” conferring broad-spectrum resistance and demonstrates that the encoded protein regulates immunity-related genes. Loss of function of BSR-K1 in rice leads to enhanced broad-spectrum resistance to two serious rice diseases with no major penalty on yield. This report provides insights into broad-spectrum resistance and offers an efficient strategy to breeding durably resistant rice.

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A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis

Cited by 19 publications

References 59 publications

Targeted Next-Generation Sequencing of 117 Routine Clinical Samples Provides Further Insights into the Molecular Landscape of Uveal Melanoma

Targeted Next-Generation Sequencing of 117 Routine Clinical Samples Provides Further Insights into the Molecular Landscape of Uveal Melanoma

Pediatric Dilated Cardiomyopathy‐Associated LRRC10 (Leucine‐Rich Repeat–Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L‐Type Ca ²⁺ Channels

Loss of function of a rice TPR-domain RNA-binding protein confers broad-spectrum disease resistance

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A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis

Cited by 19 publications

References 59 publications

Targeted Next-Generation Sequencing of 117 Routine Clinical Samples Provides Further Insights into the Molecular Landscape of Uveal Melanoma

Targeted Next-Generation Sequencing of 117 Routine Clinical Samples Provides Further Insights into the Molecular Landscape of Uveal Melanoma

Pediatric Dilated Cardiomyopathy‐Associated LRRC10 (Leucine‐Rich Repeat–Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L‐Type Ca 2+ Channels

Loss of function of a rice TPR-domain RNA-binding protein confers broad-spectrum disease resistance

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Pediatric Dilated Cardiomyopathy‐Associated LRRC10 (Leucine‐Rich Repeat–Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L‐Type Ca ²⁺ Channels