A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestations

Zhu, Yingchuan; Tan, Hao; Zeng, Jiayi; Tao, Dachang; Ma, Yongxin

doi:10.1007/s13258-018-0763-4

Cited by 10 publications

(8 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Crx plays an important role in the differentiation and maintenance of photoreceptors and appears to be at the top of the retinal gene regulatory hierarchy (Meng et al, 2013;Homma et al, 2017;Assawachananont et al, 2018;Ruzycki et al, 2018). Mutations in this gene have been found to be associated with macular dystrophy (Griffith et al, 2018), photoreceptor defects (Ruzycki et al, 2017), and retinitis pigmentosa (Zhu et al, 2019), among other disorder. Rx activity does not regulate the expression of crx during photoreceptor development (Nelson et al, 2009), and crx downregulation in S. anophthalmus cavefish is a major contributor to the inactivity of retina-specific genes (with the exception of rx1) and small eyes (Meng et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Comparative Transcriptome Profiling of the Loaches Triplophysa bleekeri and Triplophysa rosa Reveals Potential Mechanisms of Eye Degeneration

et al. 2020

View full text Add to dashboard Cite

Eye degeneration is one of the most obvious characteristics of organisms restricted to subterranean habitats. In cavefish, eye degeneration has evolved independently numerous times and each process is associated with different genetic mechanisms. To gain a better understanding of these mechanisms, we compared the eyes of adult individuals of the cave loach Triplophysa rosa and surface loach Triplophysa bleekeri. Compared with the normal eyes of the surface loach, those of the cave loach were found to possess a small abnormal lens and a defective retina containing photoreceptor cells that lack outer segments. Sequencing of the transcriptomes of both species to identify differentially expressed genes (DEGs) and genes under positive selection revealed 4,802 DEGs and 50 genes under positive selection (dN/dS > 1, FDR < 0.1). For cave loaches, we identified one Gene Ontology category related to vision that was significantly enriched in downregulated genes. Specifically, we found that many of the downregulated genes, including pitx3, lim2, crx, gnat2, rx1, rho, prph2, and b|g-crystallin are associated with lens/retinal development and maintenance. However, compared with those in the surface loach, the lower dS rates but higher dN rates of the protein-coding sequences in T. rosa indicate that changes in amino acid sequences might be involved in the adaptation and visual degeneration of cave loaches. We also found that genes associated with light perception and light-stimulated vision have evolved at higher rates (some genes dN/dS > 1 but FDR > 0.1). Collectively, the findings of this study indicate that the degradation of cavefish vision is probably associated with both gene expression and amino acid changes and provide new insights into the mechanisms underlying the degeneration of cavefish eyes.

show abstract

Section: Discussionmentioning

confidence: 99%

Comparative Transcriptome Profiling of the Loaches Triplophysa bleekeri and Triplophysa rosa Reveals Potential Mechanisms of Eye Degeneration

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Anti‐GAPDH was used as an internal control antibody. The specific experimental protocol of IB experiment referred to the paper published by Zhu et al ( 2019 ).…”

Section: Methodsmentioning

confidence: 99%

Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family

Liu

Zhu

Huang

et al. 2021

Molec Gen & Gen Med

Self Cite

View full text Add to dashboard Cite

show abstract

“…Mutations of the human CRX gene are associated with diseases characterized by photoreceptor cell destruction: Autosomal-dominant cone-rod dystrophy 2, Leber's congenital amaurosis-7 (LCA7) (both autosomal-recessive and -dominant patterns), and, in rare cases, autosomal-dominant RP [108][109][110][111][112]. These diseases are phenotypically and genetically heterogeneous.…”

Section: Crxmentioning

confidence: 99%

Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes

Markitantova

Симирский

2020

IJMS

View full text Add to dashboard Cite

Retinal development is under the coordinated control of overlapping networks of signaling pathways and transcription factors. The paper was conceived as a review of the data and ideas that have been formed to date on homeobox genes mutations that lead to the disruption of eye organogenesis and result in inherited eye/retinal diseases. Many of these diseases are part of the same clinical spectrum and have high genetic heterogeneity with already identified associated genes. We summarize the known key regulators of eye development, with a focus on the homeobox genes associated with monogenic eye diseases showing retinal manifestations. Recent advances in the field of genetics and high-throughput next-generation sequencing technologies, including single-cell transcriptome analysis have allowed for deepening of knowledge of the genetic basis of inherited retinal diseases (IRDs), as well as improve their diagnostics. We highlight some promising avenues of research involving molecular-genetic and cell-technology approaches that can be effective for IRDs therapy. The most promising neuroprotective strategies are aimed at mobilizing the endogenous cellular reserve of the retina.

show abstract

A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestations

Cited by 10 publications

References 21 publications

Comparative Transcriptome Profiling of the Loaches Triplophysa bleekeri and Triplophysa rosa Reveals Potential Mechanisms of Eye Degeneration

Comparative Transcriptome Profiling of the Loaches Triplophysa bleekeri and Triplophysa rosa Reveals Potential Mechanisms of Eye Degeneration

Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family

Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes

Contact Info

Product

Resources

About