The genetic dissection of Myo7a gene expression in the retinas of BXD mice

Ye Lu, Diana Zhou, Rebecca King, Shuang Zhu, Claire L. Simpson, Byron C. Jones, Wenbo Zhang, Eldon E. Geisert, Lu Lu

Research output: Contribution to journalArticle

Abstract

Purpose: Usher syndrome (US) is characterized by a loss of vision due to retinitis pigmentosa (RP) and deafness. US has three clinical subtypes, but even within each subtype, the severity varies. Myosin VIIA, coded by Myo7a, has been identified as one of the causal genes of US. This study aims to identify pathways and other genes through which Myo7a interacts to affect the presentation of US symptoms. Methods: In this study, we used the retinal tissue of BXD recombinant inbred (RI) mice to examine the expression of Myo7a and perform genetic mapping. Expression quantitative trait locus (eQTL), single nucleotide polymorphism (SNP), and gene correlation analysis were performed using GeneNetwork. Gene set enrichment analysis was performed using WebGestalt, and gene network construction was performed using the Gene Cohesion Analysis Tool. Results: We found Myo7a to be cis-regulated, with varied levels of expression across BXD strains. Here, we propose a genetic network with 40 genes whose expression is highly correlated with Myo7a. Among these genes, six have been linked to retinal diseases, three to deafness, and five share a transcription factor with Myo7a. Gene ontology and pathway analysis revealed a strong connection among ion channel activity, Myo7a, and US. Conclusions: Although Myo7a is a causal gene of US type I, this gene works with many other genes and pathways to affect the severity of US. Many of the genes found in the genetic network, pathways, and gene ontology categories of Myo7a are related to either deafness or blindness. Further investigation is needed to examine the specific relationships between these genes, which may assist in the treatment of US.

Original languageEnglish (US)
Pages (from-to)115-126
Number of pages12
JournalMolecular Vision
Volume24
StatePublished - Feb 3 2018

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Usher Syndromes
Retina
Dissection
Gene Expression
Genes
Gene Ontology
Deafness
Deaf-Blind Disorders
Retinal Diseases
Retinitis Pigmentosa
Gene Regulatory Networks
Quantitative Trait Loci
Myosins
Ion Channels
Single Nucleotide Polymorphism
Transcription Factors

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Lu, Y., Zhou, D., King, R., Zhu, S., Simpson, C. L., Jones, B. C., ... Lu, L. (2018). The genetic dissection of Myo7a gene expression in the retinas of BXD mice. Molecular Vision, 24, 115-126.

The genetic dissection of Myo7a gene expression in the retinas of BXD mice. / Lu, Ye; Zhou, Diana; King, Rebecca; Zhu, Shuang; Simpson, Claire L.; Jones, Byron C.; Zhang, Wenbo; Geisert, Eldon E.; Lu, Lu.

In: Molecular Vision, Vol. 24, 03.02.2018, p. 115-126.

Research output: Contribution to journalArticle

Lu, Y, Zhou, D, King, R, Zhu, S, Simpson, CL, Jones, BC, Zhang, W, Geisert, EE & Lu, L 2018, 'The genetic dissection of Myo7a gene expression in the retinas of BXD mice', Molecular Vision, vol. 24, pp. 115-126.
Lu Y, Zhou D, King R, Zhu S, Simpson CL, Jones BC et al. The genetic dissection of Myo7a gene expression in the retinas of BXD mice. Molecular Vision. 2018 Feb 3;24:115-126.
Lu, Ye ; Zhou, Diana ; King, Rebecca ; Zhu, Shuang ; Simpson, Claire L. ; Jones, Byron C. ; Zhang, Wenbo ; Geisert, Eldon E. ; Lu, Lu. / The genetic dissection of Myo7a gene expression in the retinas of BXD mice. In: Molecular Vision. 2018 ; Vol. 24. pp. 115-126.
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