Tcof1-Related Molecular Networks in Treacher Collins Syndrome

Dai, Jiewen; Si, Jiawen; Wang, Minjiao; Huang, Li; Fang, Bing; Shi, Jun; Wang, Xudong; Shen, Guofang

doi:10.1097/scs.0000000000002719

Cited by 15 publications

(10 citation statements)

References 31 publications

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“…The TCOF1 gene encodes a nucleolar protein, which is involved in ribosomal DNA gene transcription through its interaction with upstream binding transcription factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development [ 57 ]. This condition is characterized among others by airway problems, secondary to mandibular and pharyngeal hypoplasia, small or obstructed nasal passages etc.…”

Section: Discussionmentioning

confidence: 99%

A compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments

2017

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BackgroundMany mammals are well adapted to surviving in extremely cold environments. These species have likely accumulated genetic changes that help them efficiently cope with low temperatures. It is not known whether the same genes related to cold adaptation in one species would be under selection in another species. The aims of this study therefore were: to create a compendium of mammalian genes related to adaptations to a low temperature environment; to identify genes related to cold tolerance that have been subjected to independent positive selection in several species; to determine promising candidate genes/pathways/organs for further empirical research on cold adaptation in mammals.ResultsAfter a search for publications containing keywords: “whole genome”, “transcriptome or exome sequencing data”, and “genome-wide genotyping array data” authors looked for information related to genetic signatures ascribable to positive selection in Arctic or Antarctic mammalian species. Publications related to Human, Arctic fox, Yakut horse, Mammoth, Polar bear, and Minke whale were chosen. The compendium of genes that potentially underwent positive selection in >1 of these six species consisted of 416 genes. Twelve of them showed traces of positive selection in three species. Gene ontology term enrichment analysis of 416 genes from the compendium has revealed 13 terms relevant to the scope of this study. We found that enriched terms were relevant to three major groups: terms associated with collagen proteins and the extracellular matrix; terms associated with the anatomy and physiology of cilium; terms associated with docking. We further revealed that genes from compendium were over-represented in the lists of genes expressed in the lung and liver.ConclusionsA compendium combining mammalian genes involved in adaptation to cold environment was designed, based on the intersection of positively selected genes from six Arctic and Antarctic species. The compendium contained 416 genes that have been positively selected in at least two species. However, we did not reveal any positively selected genes that would be related to cold adaptation in all species from our list. But, our work points to several strong candidate genes involved in mechanisms and biochemical pathways related to cold adaptation response in different species.Electronic supplementary materialThe online version of this article (10.1186/s12863-017-0580-9) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

A compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments

2017

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“…Nopp140 is in structure and function related to Treacle, representing an essential gene in the ribosomopathy syndrome Treacher Collins syndrome (TCS) (Valdez et al, 2004; Sakai and Trainor, 2009; Dai et al, 2016). Depletion of the nucleolar phosphoprotein Nopp140 in the imaginal wing disks of Drosophila results in nucleolar stress, loss of ribosomes and p53-independent apoptosis (James et al, 2013).…”

Section: Nucleolar Factors and Nucleolar Stress In The Regulation Of mentioning

confidence: 99%

Emerging Role of the Nucleolar Stress Response in Autophagy

Pfister

2019

Front. Cell. Neurosci.

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Autophagy represents a conserved self-digestion program, which allows regulated degradation of cellular material. Autophagy is activated by cellular stress, serum starvation and nutrient deprivation. Several autophagic pathways have been uncovered, which either non-selectively or selectively target the cellular cargo for lysosomal degradation. Autophagy engages the coordinated action of various key regulators involved in the steps of autophagosome formation, cargo targeting and lysosomal fusion. While non-selective (macro)autophagy is required for removal of bulk material or recycling of nutrients, selective autophagy mediates specific targeting of damaged organelles or protein aggregates. By proper action of the autophagic machinery, cellular homeostasis is maintained. In contrast, failure of this fundamental process is accompanied by severe pathophysiological conditions. Hallmarks of neuropathological disorders are for instance accumulated, mis-folded protein aggregates and damaged mitochondria. The nucleolus has been recognized as central hub in the cellular stress response. It represents a sub-nuclear organelle essential for ribosome biogenesis and also functions as stress sensor by mediating cell cycle arrest or apoptosis. Thus, proper nucleolar function is mandatory for cell growth and survival. Here, I highlight the emerging role of nucleolar factors in the regulation of autophagy. Moreover, I discuss the nucleolar stress response as a novel signaling pathway in the context of autophagy, health and disease.

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“…Pathogenic variants in TCOF1 gene lead to haploinsufficiency of the treacle protein (8). The majority of pathogenic variants cause the premature stop codon.…”

Section: Discussionmentioning

confidence: 99%

Treacher Collins syndrome with a novel deletion in the TCOF1 gene

Çavdartepe¹

2019

Erciyes Med J

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syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by various craniofacial malformations. The estimated incidence is 1 in 50000 live births. Bilaterally symmetric anomalies of the structure are present within the first and second branchial arches. Characteristic facial findings includes bilateral hypoplasia of the malar bones and mandible. This syndrome most commonly results from mutations in the TCOF1 gene. Here we present a five-year-old female patient with syndromic appearance and hearing loss. The patient had various facial dysmorphic features and malformed bilateral pinnae and left ear microtia. According to the clinical features, we suspected TCS and sequence analysis of TCOF1 gene was performed. A heterozygous new mutation c.1722_1731delCATCCTCCAG in exon 12 of the TCOF1 gene was detected. It has been determined that this mutation is pathogenic according to the in silico prediction tools. The current study further expands the TCOF1 mutation spectrum.

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Tcof1-Related Molecular Networks in Treacher Collins Syndrome

Cited by 15 publications

References 31 publications

A compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments

A compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments

Emerging Role of the Nucleolar Stress Response in Autophagy

Treacher Collins syndrome with a novel deletion in the TCOF1 gene

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