Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.

ABSTRACT: Insulin is amongst the human genome's most well-studied genes/proteins due to its connection to metabolic health. Within this article, we review literature and data to build a knowledge base of Insulin (INS) genetics that influence transcription, transcript processing, translation, hormone maturation, secretion, receptor binding, and metabolism while highlighting the future needs of insulin research. The INS gene region has 2076 unique variants from population genetics. Several variants are found near the transcriptional start site, enhancers, and following the INS transcripts that might influence the readthrough fusion transcript INS-IGF2. This INS-IGF2 transcript splice site was confirmed within hundreds of pancreatic RNAseq samples, lacks drift based o

SUBMITTER: Cook TW 

PROVIDER: S-EPMC9953665 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature