Systematic Functional Characterization of Human 21st Chromosome Orthologs in<i>Caenorhabditis elegans</i>

Nordquist, Sarah K.; Smith, Sofia R.; Pierce, Jonathan T.

doi:10.1101/136911

Cited by 3 publications

(3 citation statements)

References 91 publications

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“…Recently, DONSON was found to encode a novel fork protein factor and play an important role in mammalian DNA replication and genome stability. Moreover, its mutation caused microcephalic dwarfism . Previous studies showed that DONSON is a member of replisome complex and protected stalled or damaged replication forks.…”

Section: Discussionmentioning

confidence: 99%

Replisome genes regulation by antitumor miR‐101‐5p in clear cell renal cell carcinoma

et al. 2020

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| INTRODUC TI ONRenal cell carcinoma (RCC) accounts for approximately 3% of adult malignancies and is the 12th most prevalent malignancy worldwide, with 338 000 newly diagnosed patients in 2012 and approximately 100 000 deaths annually. 1 Clear cell RCC (ccRCC) is pathologically the most common type and accounts for approximately 75% of all cases. 2 Although the prognosis is favorable with surgical resection for nonmetastatic RCC, approximately 20%-30% of RCC patients have metastatic sites at the diagnosis and the 5-year survival rate is less than 20%. 2,3 In addition, more than 20% of patients develop metastases during postoperative follow-up periods. 4 These clinical issues are caused by a lack of useful biomarkers for early detection of RCC and the inefficiency of therapy for patients with metastatic or treatment-resistant RCC. Abstract Analysis of microRNA (miRNA) regulatory networks is useful for exploring novel biomarkers and therapeutic targets in cancer cells. The Cancer Genome Atlas dataset shows that low expression of both strands of pre-miR-101 (miR-101-5p and miR-101-3p) significantly predicted poor prognosis in clear cell renal cell carcinoma (ccRCC). The functional significance of miR-101-5p in cancer cells is poorly understood. Here, we focused on miR-101-5p to investigate the antitumor function and its regulatory networks in ccRCC cells. Ectopic expression of mature miRNAs or siRNAs was investigated in cancer cell lines to characterize cell function, ie, proliferation, apoptosis, migration, and invasion. Genome-wide gene expression and in silico database analyses were undertaken to predict miRNA regulatory networks. Expression of miR-101-5p caused cell cycle arrest and apoptosis in ccRCC cells. Downstream neighbor of son (DONSON) was directly regulated by miR-101-5p, and its aberrant expression was significantly associated with shorter survival in propensity score-matched analysis (P = .0001). Knockdown of DONSON attenuated ccRCC cell aggressiveness. Several replisome genes controlled by DONSON and their expression were closely associated with ccRCC pathogenesis.The antitumor miR-101-5p/DONSON axis and its modulated replisome genes might be a novel diagnostic and therapeutic target for ccRCC.

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Section: Discussionmentioning

confidence: 99%

Replisome genes regulation by antitumor miR‐101‐5p in clear cell renal cell carcinoma

et al. 2020

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“…Nordquist et al [49] contributed to the functional annotation of Hsa21 genes by analyzing locomotion, exploration, and feeding behavior in worms with knockout mutations in orthologs of 27 Hsa21 genes. This screen identified ten Hsa21 genes as candidates for neurodevelopmental phenotypes: SYNJ1, CBS, RUNX1, EVA1C, DONSON, N6AMT1, PDXK1, COL18A1, NCAM2, and POFUT2.…”

Section: Systematic Characterization Of Hsa21 Orthologs In C Elegansmentioning

confidence: 99%

All Creatures Great and Small: New Approaches for Understanding Down Syndrome Genetics

2021

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“…Affected individuals often die perinatally due to incomplete lung development. A neuronal function was implied by altered movement patterns of Caenorhabditis elegans mutants featuring DONSON variants [26]. Since microcephaly, pre-and postnatal growth retardation, and skeletal abnormalities, especially radial ray defects, occur in both diseases some MISSLA patients have originally been diagnosed with Fanconi anaemia (FA) [21,24].…”

Section: Introductionmentioning

confidence: 99%

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

et al. 2019

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Variants in DONSON were recently identified as the cause of microcephaly, short stature, and limb abnormalities syndrome (MISSLA). The clinical spectra of MISSLA and Fanconi anaemia (FA) strongly overlap. For that reason, some MISSLA patients have been clinically diagnosed with FA. Here, we present the clinical data of siblings with MISSLA featuring a novel DONSON variant and summarize the current literature on MISSLA. Additionally, we perform computer-aided image analysis using the DeepGestalt technology to test how distinct the facial features of MISSLA and FA patients are. We show that MISSLA has a specific facial gestalt. Notably, we find that also FA patients feature facial characteristics recognizable by computer-aided image analysis. We conclude that computer-assisted image analysis improves diagnostic precision in both MISSLA and FA.

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Systematic Functional Characterization of Human 21st Chromosome Orthologs inCaenorhabditis elegans

Cited by 3 publications

References 91 publications

Replisome genes regulation by antitumor miR‐101‐5p in clear cell renal cell carcinoma

Replisome genes regulation by antitumor miR‐101‐5p in clear cell renal cell carcinoma

All Creatures Great and Small: New Approaches for Understanding Down Syndrome Genetics

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

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