ZMAT2 in Humans and Other Primates: A HighlyConserved and Understudied Gene

摘要

Recent advances in genetics present unique opportunities for enhancing ourunderstanding of human physiology and disease predisposition through detailedanalysis of gene structure, expression, and population variation via examinationof data in publicly accessible genome and gene expression repositories. Yet, thevast majority of human genes remain understudied. Here, we show the scope ofthese genomic and genetic resources by evaluating ZMAT2, amember of a 5-gene family that through May 2020 had been the focus of only 4peer-reviewed scientific publications. Using analysis of information extractedfrom public databases, we show that human ZMAT2 is a 6-exongene and find that it exhibits minimal genetic variation in human populationsand in disease states, including cancer. We further demonstrate that the geneand its encoded protein are highly conserved among nonhuman primates and definea cohort of ZMAT2 pseudogenes in the marmoset genome.Collectively, our investigations illustrate how complementary use of genomic,gene expression, and population genetic resources can lead to new insights abouthuman and mammalian biology and evolution, and when coupled with data supportingkey roles for ZMAT2 in keratinocyte differentiation and pre-RNA splicing arguethat this gene is worthy of further study.