References
- Turner KM, Deshpande V, Beyter D, et al. Extrachromosomal oncogene amplification drives tumour evolution and genetic heterogeneity. Nature. 2017;543:122–12.
- Moller HD, Mohiyuddin M, Prada-Luengo I, et al. Circular DNA elements of chromosomal origin are common in healthy human somatic tissue. Nat Commun. 2018;9:1069.
- Shibata Y, Kumar P, Layer R, et al. Extrachromosomal microDnas and chromosomal microdeletions in normal tissues. Science. 2012;336:82–86.
- Pennisi E. Circular DNA throws biologists for a loop. Science. 2017;356:996.
- Sin STK, Jiang P, Deng J, et al. , Identification and characterization of extrachromosomal circular DNA in maternal plasma. Proceedings of the National Academy of Sciences of the United States of America. 2020 Jan 21;117:1658–1665.
- Verhaak RGW, Bafna V, Mischel PS. Extrachromosomal oncogene amplification in tumour pathogenesis and evolution. Nat Rev Cancer. 2019;19(5):283–288.
- Kumar P, Kiran S, Saha S, et al. ATAC-seq identifies thousands of extrachromosomal circular DNA in cancer and cell lines. Sci Adv. 2020;6:eaba2489.
- deCarvalho AC, Kim H, Poisson LM, et al. Discordant inheritance of chromosomal and extrachromosomal DNA elements contributes to dynamic disease evolution in glioblastoma. Nature Genet. 2018;50:708–717.
- Koche RP, Rodriguez-Fos E, Helmsauer K, et al. Extrachromosomal circular DNA drives oncogenic genome remodeling in neuroblastoma. Nature Genet. 2020;52:29–34.
- Paulsen T, Kumar P, Koseoglu MM, et al. Discoveries of extrachromosomal circles of DNA in normal and tumor cells. Trends Genet. 2018;34:270–278.
- Hotta Y, Bassel A , Molecular size and circularity of DNA in cells of mammals and higher plants. Proceedings of the National Academy of Sciences of the United States of America. 1965 Feb;53;356–362.
- Nathanson DA, Gini B, Mottahedeh J, et al. Targeted therapy resistance mediated by dynamic regulation of extrachromosomal mutant EGFR DNA. Science. 2014;343:72–76.
- Salmaninejad A, Motaee J, Farjami M, et al. Next-generation sequencing and its application in diagnosis of retinitis pigmentosa. Ophthalmic Genet. 2019;40:393–402.
- Prada-Luengo I, Krogh A, Maretty L, et al. Sensitive detection of circular DNAs at single-nucleotide resolution using guided realignment of partially aligned reads. BMC Bioinf. 2019;20:663.
- Saw SM, Gazzard G, Shih-Yen EC, et al. Myopia and associated pathological complications. Ophthalmic & Physiological Optics: The Journal of the British College of Ophthalmic Opticians. 2005;25(5):381–391.
- Holden BA, Fricke TR, Wilson DA, et al. Global prevalence of myopia and high myopia and temporal trends from 2000 through 2050. Ophthalmol. 2016;123:1036–1042.
- Wong YL, Saw SM. Epidemiology oF pathologic myopia in Asia and worldwide. Asia-Pac J Ophthalmol. 2016;5(6):394–402.
- Young TL, Metlapally R, Shay AE. Complex trait genetics of refractive error. Arch Ophtalmol. 2007;125(1):38–48.
- Chen CY, Scurrah KJ, Stankovich J, et al. Heritability and shared environment estimates for myopia and associated ocular biometric traits: the genes in myopia (GEM) family study. Hum Genet. 2007;121(3–4):511–520. DOI:10.1007/s00439-006-0312-0
- Martin M. Cutadapt removes adapter sequences from high-throughput sequencing reads. EMBnet journal. 2011;17(1):3.
- Li H, Durbin R. Fast and accurate short read alignment with burrows–wheeler transform. Bioinformatics. 2009;25(14):1754–1760.
- Li H, Handsaker B, Wysoker A, et al. The sequence alignment/map format and samtools. Bioinformatics. 2009;25:2078–2079.
- Robinson MD, McCarthy DJ, Smyth GK. edgeR: a bioconductor package for differential expression analysis of digital gene expression data. Bioinformatics. 2010;26:139–140.
- Quinlan AR, Hall IM. Bedtools: a flexible suite of utilities for comparing genomic features. Bioinformatics. 2010;26:841–842.
- Thorvaldsdottir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform. 2013;14:178–192.
- Moller HD, Parsons L, Jorgensen TS, et al. , Extrachromosomal circular DNA is common in yeast. Proceedings of the National Academy of Sciences of the United States of America. 2015 Jun 16;112:E3114–3122.
- Moller HD, Bojsen RK, Tachibana C, et al. Genome-wide purification of extrachromosomal circular DNA from eukaryotic cells. J Vis Exp. 2016;e54239. DOI:10.3791/54239
- Wen K, Zhang Y, Li Y, et al. Comprehensive analysis of transcriptome-wide m 6 a methylome in the anterior capsule of the lens of high myopia patients. Epigenetics. 2020;16(9):1–14.
- Gresham D, Usaite R, Germann SM, et al. Adaptation to diverse nitrogen-limited environments by deletion or extrachromosomal element formation of the GAP1 locus. Proceedings of the National Academy of Sciences of the United States of America, 2010 Oct 26;107:18551–18556.
- Turner DJ, Miretti M, Rajan D, et al. Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nature Genet. 2008;40:90–95.
- Moller HD, Larsen CE, Parsons L, et al. Formation of Extrachromosomal Circular DNA from Long Terminal Repeats of Retrotransposons in Saccharomyces cerevisiae. G3: Genes | Genomes | Genetics. 2015;G3(6):453–462.
- Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science. 2001;291:1304–1351.
- Tumer Z, Harboe TL, Blennow E, et al. Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am J Med Genet A. 2004;130A(4):340–344.
- Guilherme RS, Meloni VF, Kim CA, et al. Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Med Gene. 2011;12:171.
- Wang P, Jia X, Xiao X, et al. An early diagnostic clue for COL18A1- and LAMA1-associated diseases: high myopia with alopecia areata in the cranial midline. Front Cell Dev Biol. 2021;9:644947.
- Hawthorne F, Feng S, Metlapally R, et al. Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. Invest Ophthalmol Visual Sci. 2013;54(3):2076–2086. DOI:10.1167/iovs.12-11102
- Lu Q, Aguilar BJ, Li M, et al. Genetic alterations of δ-catenin/nprap/neurojungin (CTNND2): functional implications in complex human diseases. Hum Genet. 2016;135(10):1107–1116.
- Li YJ, Goh L, Khor CC, et al. Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese. Ophthalmol. 2011;118(2):368–375. DOI:10.1016/j.ophtha.2010.06.016
- Lu B, Jiang D, Wang P, et al. Replication study supports CTNND2 as a susceptibility gene for high myopia. Invest Ophthalmol Visual Sci. 2011;52(11):8258–8261. DOI:10.1167/iovs.11-7914
- Yu Z, Zhou J, Chen X, et al. Polymorphisms in the CTNND2 gene and 11q24.1 genomic region are associated with pathological myopia in a Chinese population. Ophthalmol J int d’ophtalmologie Int j ophthalmol Zeitschrift fur Augenheilkunde. 2012;228(2):123–129.
- Pan CW, Zheng YF, Anuar AR, et al. Prevalence of refractive errors in a multiethnic Asian population: the Singapore epidemiology of eye disease study. Invest Ophthalmol Visual Sci. 2013;54(4):2590–2598. DOI:10.1167/iovs.13-11725
- Xiang F, He M, Morgan IG. The impact of parental myopia on myopia in Chinese children: population-based evidence. Optom Vis Sci. 2012;89:1487–1496.