Department of Biotechnology and Bioinformatics, Birla Institute of Scientific Research (BISR), Statue Circle, Jaipur 302021, India.
Department of Biotechnology, Amity University Rajasthan, Kant Kalwar, Jaipur 303002, India.
Biomolecules. 2018 Sep 17;8(3):95. doi: 10.3390/biom8030095.
Congenital Pouch Colon (CPC) is a rare anorectal anomaly common to northwestern India, specifically Rajasthan. Despite efforts to understand the clinical genetic makeup of CPC, no attempt on identifying non-coding RNAs was done. We have earlier reported CPC's rare variants from whole exome sequencing (WES) across 18 affected samples in a total of 64 subjects. A Smith⁻Waterman algorithm was used to infer a couple of lncRNAs from WES samples of CPC with predictions from the Noncode database. Further screening and quantification using polymerase chain reaction (PCR), we ascertained interactions using Micro Scale Thermophoresis (MST). We report the role of -EPB41-1-1 shown to be promiscuously interacting with KIF13A substantiating their role in regulation.
先天性袋状结肠（CPC）是一种罕见的肛肠畸形，常见于印度西北部，特别是拉贾斯坦邦。尽管人们努力了解 CPC 的临床遗传构成，但尚未尝试鉴定非编码 RNA。我们之前曾从总共 64 名受影响的样本中的 18 个 CPC 全外显子组测序（WES）报告了 CPC 的罕见变体。Smith-Waterman 算法用于从 CPC 的 WES 样本中推断出几个 lncRNA，并从 Noncode 数据库进行预测。进一步使用聚合酶链反应（PCR）进行筛选和定量，我们使用微尺度热泳动（MST）确定了相互作用。我们报告了-EPB41-1-1 的作用，该基因被证明与 KIF13A 广泛相互作用，证实了它们在调节中的作用。
