A Second Locus for Familial High Myopia Maps to Chromosome 12q

Young, Terri L.; Ronan, Shawn M.; Alvear, Alison; Wildenberg, Scott C.; Oetting, William S.; Atwood, Larry D.; Wilkin, Douglas J.; King, Richard A.

doi:10.1086/302111

Cited by 191 publications

(125 citation statements)

References 18 publications

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“…The Epyc gene is located in the mapping interval of MYP3, which has been suggested to be a candidate gene for high myopia [28,29]. The EPYC protein is predominantly expressed in cartilage, and it is important for fibrillogenesis through the regulation of collagen fibrils [30,31].…”

Section: Discussionmentioning

confidence: 99%

Determination of the Effects of Sevoflurane Anesthesia in Different Maturing Stages of the Mouse Hippocampus by Transcriptome Analysis

Hayase¹,

Tachibana²,

Yamakage³

2017

J Aging Sci

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Purpose: Postoperative cognitive dysfunction (POCD) is a serious complication after general anesthesia. POCD is more likely to occur in elderly patients, but the mechanism of POCD has not been fully elucidated. We hypothesized that the difference of mRNA expression profile in the brain depending on the maturing stage causes the difference in the effect of sevoflurane anesthesia. We investigated the mRNA expression profile of hippocampal cells in young mice and in aged mice under sevoflurane anesthesia using transcriptome analysis. Methods:This study was conducted after approval from our institutional animal ethics committee, the Animal Research Center of Sapporo Medical University School of Medicine (project number: 12-033). Eight mice were assigned to two groups: a young group and an aged group. Each of the 4 mice in the two groups was anesthetized with 3.5% sevoflurane for 1 hour. Subsequently, mRNA was isolated from hippocampal cells and RNA sequencing was performed on an Illumina HiSeq 2500 platform. Mapping of the quality-controlled, filter paired-end reads to mouse genomes and quantification of the expression level of each gene were performed using R software. Results:The Lhx9 gene, which is thought to be associated with neuronal inflammation, was the most highly upregulated gene in aged mice. The Epyc gene, which encodes a protein related to the phospholipase-C pathway and ERK signaling, was the most down-regulated gene in aged mice. Conclusions:The findings suggest that sevoflurane anesthesia induces neuronal inflammation via a LIMhomeodomain family related gene in aged mice and causes POCD.

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Section: Discussionmentioning

confidence: 99%

Determination of the Effects of Sevoflurane Anesthesia in Different Maturing Stages of the Mouse Hippocampus by Transcriptome Analysis

Hayase¹,

Tachibana²,

Yamakage³

2017

J Aging Sci

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“…Hereditary [17][18][19][20][21][22] and environmental [23][24][25] factors have been postulated to be responsible for myopia and myopic progression. Our study found that the incidence of children who revealed myopic progression or stability, or even regression may be related to whether or not their parent(s) suffered from myopia.…”

Section: Discussionmentioning

confidence: 99%

Long-term visual prognosis of infantile-onset high myopia

Shih

Hsiao

et al. 2005

Eye

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Purpose To investigate the clinical course and changes of refractive status in infantile-onset myopic children who received fully corrected glasses and to determine their visual prognosis. Methods In all, 57 children with infantileonset high myopia (spherical equivalent over À5.0 D prior to the age of 5 years) were included in this study. All children received initial full-correction glasses at the mean age of 3.52 years. The cycloplegic refraction, axial length, and the best-corrected visual acuity were collected every 6 months. The mean follow-up time was 9.36 years. Results We noted that the tendency toward progression or regression of myopia appeared to be related to the degree of refractive error. Lower grades of high myopia (À5.0 to À7.75 D) showed a greater tendency to progress than those of the highest initial myopic refraction level (rÀ11.0 D). While the latter group exhibited a more-substantial regression rate than those cases of the lower initial refraction level. About 80% of infantile-onset high myopes demonstrated a final best-corrected vision of greater than 20/40, with 37% of children revealing a best-corrected vision level even better than 20/25. Conclusion Clinical course of infantile high myopia is different to school myopia. Usually, higher degree of high myopia showed a stable state of myopia, or even possible regression, whereas the lower grades of high myopia revealed a strong tendency to progress.

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“…An ϳ4.6-kb NotI/ MluI zebrafish genomic DNA fragment containing the 5Ј portion of the zebrafish lumican gene was amplified by PCR and subcloned into the pBluescript SK vector (Stratagene, La Jolla, CA). The insert was sequenced, using T 3 , T 7 , and walk-in primers, by the DNA core of the Department of Molecular Genetics, National Taiwan University.…”

Section: Methodsmentioning

confidence: 99%

“…biglycan (Xq27ter), decorin (12q21-22), lumican (12q21. [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22], and DSPG3 (12q21) (4 -9). Our previous study showed that certain variations (rs3759223 (C3 T)) of single nucleotide polymorphism in the lumican regulatory region may influence the promoter activities of lumican and affect fibrillogenesis in myopic eyes (10).…”

mentioning

confidence: 99%

Knockdown of Zebrafish Lumican Gene (zlum) Causes Scleral Thinning and Increased Size of Scleral Coats

Yeh

Liu

Kao

et al. 2010

Journal of Biological Chemistry

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The lumican gene (lum), which encodes one of the major keratan sulfate proteoglycans (KSPGs) in the vertebrate cornea and sclera, has been linked to axial myopia in humans. In this study, we chose zebrafish (Danio rerio) as an animal model to elucidate the role of lumican in the development of axial myopia. The zebrafish lumican gene (zlum) spans ϳ4.6 kb of the zebrafish genome. Like human (hLUM) and mouse (mlum), zlum consists of three exons, two introns, and a TATA box-less promoter at the 5-flanking region of the transcription initiation site. Sequence analysis of the cDNA predicts that zLum encodes 344 amino acids. zLum shares 51% amino acid sequence identity with human lumican. Similar to hLUM and mlum, zlum mRNA is expressed in the eye and many other tissues, such as brain, muscle, and liver as well. Transgenic zebrafish harboring an enhanced GFP reporter gene construct downstream of a 1.7-kb zlum 5-flanking region displayed enhanced GFP expression in the cornea and sclera, as well as throughout the body. Downregulation of zlum expression by antisense zlum morpholinos manifested ocular enlargement resembling axial myopia due to disruption of the collagen fibril arrangement in the sclera and resulted in scleral thinning. Administration of muscarinic receptor antagonists, e.g. atropine and pirenzepine, effectively subdued the ocular enlargement caused by morpholinos in in vivo zebrafish larvae assays. The observation suggests that zebrafish can be used as an in vivo model for screening compounds in treating myopia.Myopia is a very common ocular disorder, which is characterized by excessive elongation of the eyeball. In Taiwan, the prevalence of myopia is about 84% of schoolchildren aged 16 -18, and the prevalence of high myopia (less than Ϫ6.0 D) at 18 years of age is 24% in girls and 18% in boys (1). In contrast, the prevalence of high myopia is much lower in Western countries, about 1% of the general population (2). These studies imply that genetic susceptibility of ethnic differences may account for the high prevalence of myopia in Taiwanese.The sclera contains a collagen-rich extracellular matrix that undergoes significant biochemical and biomechanical remodeling during the development of myopia (3). Linkage studies of high myopia have identified potential loci MYP1 (Xq28) and MYP3 (12q21-23); these loci are within and/or near the loci of the human genome containing several genes that encode small leucine-rich proteoglycans (SLRP), 3 i.e. biglycan (Xq27ter), decorin (12q21-22), lumican (12q21.3-22), and DSPG3 (12q21) (4 -9). Our previous study showed that certain variations (rs3759223 (C3 T)) of single nucleotide polymorphism in the lumican regulatory region may influence the promoter activities of lumican and affect fibrillogenesis in myopic eyes (10). Furthermore, Majava et al. (11) found that a novel single nucleotide polymorphism (c.893-105G3 A) of the lumican gene was associated with high myopia. Recently, our prospective case control study also showed that genetic variation in the regulatory domai...

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A Second Locus for Familial High Myopia Maps to Chromosome 12q

Cited by 191 publications

References 18 publications

Determination of the Effects of Sevoflurane Anesthesia in Different Maturing Stages of the Mouse Hippocampus by Transcriptome Analysis

Determination of the Effects of Sevoflurane Anesthesia in Different Maturing Stages of the Mouse Hippocampus by Transcriptome Analysis

Long-term visual prognosis of infantile-onset high myopia

Knockdown of Zebrafish Lumican Gene (zlum) Causes Scleral Thinning and Increased Size of Scleral Coats

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