Nwadiugwu Martin C
Leonard Davis School of Gerontology, University of Southern California, Los Angeles, CA, USA.
Bioinform Biol Insights. 2021 Aug 14;15:11779322211040591. doi: 10.1177/11779322211040591. eCollection 2021.
Pseudogenes have been classified as functionless and their annotation is an ongoing problem. The Adh6-ps1-a mouse pseudogene belonging to the alcohol dehydrogenase gene complex (Adh) was analyzed to review the conservation, homology, expression, and interactions and identify any role it plays in disease phenotypes using bioinformatics databases. Results showed that Adh6-ps1 have 2 transcripts (processed and unprocessed) which may have emerged from a transposition and duplication event, respectively, and that induced inversions (Uox gene, In(3)11Rk) involving gene complexes associated with Adh6-ps1 have been implicated in a diverse range of diseases. Adh6-ps1 is highly conserved in vertebrates particularly rodents and expressed in the liver. The top 5 MirRNA targets were Mir455, Mir511, Mir1903, Mir361, and Mir669o markers. While much is unknown about Mir1903 and Mir669o, the silencing of Mir455 and Mir511 is linked with hepatocellular carcinoma (HCC), and Mir361 is implicated in endometrial cancers. Given the identified MirRNA interactions with Adh6-ps1 and its expression in HCC and reproductive systems, it may well have a role in tumorigenesis and disease phenotypes. Nonetheless, further studies are required to establish these facts to add to the growing efforts to understand pseudogenes and their potential involvement in disease conditions.
假基因被归类为无功能的,其注释仍是一个悬而未决的问题。对属于乙醇脱氢酶基因复合体(Adh)的Adh6-ps1-a小鼠假基因进行了分析,以利用生物信息学数据库来审视其保守性、同源性、表达及相互作用,并确定它在疾病表型中所起的任何作用。结果显示,Adh6-ps1有2种转录本(加工型和未加工型),它们可能分别源自转座和复制事件,并且涉及与Adh6-ps1相关的基因复合体的诱导倒位(Uox基因,In(3)11Rk)与多种疾病有关。Adh6-ps1在脊椎动物尤其是啮齿动物中高度保守,并在肝脏中表达。排名前5的微小RNA(MirRNA)靶标是Mir455、Mir511、Mir1903、Mir361和Mir669o标记。虽然关于Mir1903和Mir669o还有很多未知之处,但Mir455和Mir511的沉默与肝细胞癌(HCC)有关,而Mir361与子宫内膜癌有关。鉴于已确定的MirRNA与Adh6-ps1的相互作用及其在HCC和生殖系统中的表达,它很可能在肿瘤发生和疾病表型中发挥作用。尽管如此,仍需要进一步研究来证实这些事实,以增加对假基因及其在疾病状态中潜在作用的不断深入的了解。