Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.
Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.
Gene. 2021 Feb 5;768:145262. doi: 10.1016/j.gene.2020.145262. Epub 2020 Oct 23.
The human L-DOPA decarboxylase (DDC) is an enzyme that displays a pivotal role in metabolic processes. It is implicated in various human disorders, including hepatocellular and lung cancer. Several splice variants of DDC have previously been described, most of which encode for protein isoforms of this enzyme. In the present study, we used next-generation sequencing (NGS) technology along with nested touchdown PCR and Sanger sequencing to identify new splice variants bearing novel exons of the DDC gene, in hepatocellular and lung cancer cell lines. Using an in-house-developed algorithm, we discovered seven novel DDC exons. Next, we determined the structure of ten novel DDC transcripts, three of which contain an open reading frame (ORF) and probably encode for three previously unknown protein isoforms of this enzyme. Future studies should focus on the elucidation of their role in cellular physiology and cancer pathobiology.
人类左旋多巴脱羧酶（DDC）是一种在代谢过程中起关键作用的酶。它与多种人类疾病有关，包括肝癌和肺癌。以前已经描述了 DDC 的几种剪接变体，其中大多数编码该酶的蛋白质同工型。在本研究中，我们使用下一代测序（NGS）技术以及嵌套降落 PCR 和 Sanger 测序，在肝癌和肺癌细胞系中鉴定了具有 DDC 基因新外显子的新剪接变体。使用内部开发的算法，我们发现了七个新的 DDC 外显子。接下来，我们确定了十个新的 DDC 转录本的结构，其中三个包含开放阅读框（ORF），可能编码该酶的三个以前未知的蛋白质同工型。未来的研究应集中于阐明它们在细胞生理学和癌症病理生物学中的作用。
