Copy number variation

Molecular cloning, tissue expression pattern, and copy number variation of porcine SCUBE3

X. Liu, Wang, L. G., Zhang, L. C., Yan, H., Zhao, K. B., Liang, J., Li, N., Pu, L., Zhang, T., Wang, L. X., Liu, X., Wang, L. G., Zhang, L. C., Yan, H., Zhao, K. B., Liang, J., Li, N., Pu, L., Zhang, T., and Wang, L. X., Molecular cloning, tissue expression pattern, and copy number variation of porcine SCUBE3, vol. 15, p. -, 2016.

The signal peptide CUB EGF-like domain-containing protein 3 (SCUBE3) gene is a member of SCUBE gene family and plays important roles in bone cell biology and the determination of limb bone length. In this study, the full-length transcript of porcine SCUBE3 was cloned using reverse transcription-polymerase chain reaction and rapid amplification of cDNA ends. The full-length sequence of porcine SCUBE3 cDNA was 4131 base pairs and included 21 exons.

Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree

X. Jin, Chen, Y. H., Liu, Z., Deng, Y., Li, N. N., Huang, H., Qi, M., Yi, X., and Zhu, J., Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree, vol. 14, pp. 10961-10972, 2015.

Autosomal dominant optic atrophy (ADOA) is an optic neuropathy characterized by bilateral optic nerve pallor and decreased visual acuity. It has been reported to be associated with two genes, OPA1, OPA3, and the OPA4, OPA5, and OPA8 loci. However, mutations in OPA1 constitute the most prevalent cause of ADOA. The purpose of this study was to identify the underlying genetic defect in a Chinese pedigree with ADOA.

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