{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T18:19:34Z","timestamp":1758824374227,"version":"3.41.2"},"reference-count":27,"publisher":"Portland Press Ltd.","issue":"5","license":[{"start":{"date-parts":[[2019,7,25]],"date-time":"2019-07-25T00:00:00Z","timestamp":1564012800000},"content-version":"vor","delay-in-days":652,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,10,31]]},"abstract":"<jats:p>It is highly important to document the molecular alterations existing in normal cells prior to the onset of any disease. Knowledge of genetic mutations and associated molecular mechanisms will be helpful for better diagnosis and management of disease. The major focus of this commentary on providing understanding about the apolipoprotein 1 (APOL1) gene, the protein encoded by this gene (apoL1) and the mechanistic details regarding the role of apoL1 in the lysis of Trypanosoma brucei. Information about APOL1 genetic variants, APOL1G1 and APOL1G2, is provided along with the association of these variants with hypertension-attributed end-stage renal disease (ESRD) and focal segmental glomerulosclerosis (FSGS). Moreover, this commentary presents a brief overview of how the authors of a recent Bioscience Reports article [Haque et al (2017) 37, BSR20160531, doi: 10.1042\/BSR20160531] have evaluated the functional impact of G1 and G2 alleles on the transcription and translation of APOL1 mRNA.<\/jats:p>","DOI":"10.1042\/bsr20170647","type":"journal-article","created":{"date-parts":[[2017,8,26]],"date-time":"2017-08-26T00:25:17Z","timestamp":1503707117000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Transcription and translation of <i>APOL1<\/i> variants"],"prefix":"10.1042","volume":"37","author":[{"given":"Samina","family":"Ejaz","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Biotechnology, The Islamia University of Bahawalpur, Bahawalpur, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","published-online":{"date-parts":[[2017,10,11]]},"reference":[{"volume-title":"Molecular Biology of the Cell","year":"2002","author":"Alberts","key":"2021111618352996600_B1"},{"key":"2021111618352996600_B2","doi-asserted-by":"crossref","first-page":"3613","DOI":"10.1007\/s00018-012-0990-9","article-title":"Regulation of eukaryotic gene expression by the untranslated gene regions and other non-coding elements","volume":"69","author":"Barrett","year":"2012","journal-title":"Cell. Mol. Life Sci."},{"volume-title":"Genomes","year":"2002","author":"Brown","key":"2021111618352996600_B3"},{"key":"2021111618352996600_B4","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1042\/BC20080104","article-title":"Role of 5\u2032- and 3\u2032-untranslated regions of mRNAs in human diseases","volume":"101","author":"Chatterjee","year":"2009","journal-title":"Biol. Cell"},{"key":"2021111618352996600_B5","doi-asserted-by":"crossref","first-page":"427","DOI":"10.3109\/07853899209166991","article-title":"Regulatory mutations and human genetic disease","volume":"24","author":"Cooper","year":"1992","journal-title":"Ann. Med."},{"key":"2021111618352996600_B6","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1016\/S0022-2275(20)31171-8","article-title":"Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene","volume":"42","author":"Duchateau","year":"2001","journal-title":"J. Lipid Res."},{"key":"2021111618352996600_B7","article-title":"Understanding Genetics: a District of Columbia Guide for Patients and Health Professionals","volume-title":"Chapter 2, Diagnosis of a Genetic Disease","author":"Genetic Alliance, District of Columbia Department of Health","year":"2010"},{"key":"2021111618352996600_B8","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1126\/science.1193032","article-title":"Association of trypanolytic ApoL1 variants with kidney disease in African Americans","volume":"329","author":"Genovese","year":"2010","journal-title":"Science"},{"key":"2021111618352996600_B9","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1038\/msb.2011.14","article-title":"Determinants of translation efficiency and accuracy","volume":"7","author":"Gingold","year":"2011","journal-title":"Mol. Syst. Biol."},{"key":"2021111618352996600_B10","doi-asserted-by":"publisher","first-page":"BSR20160531","DOI":"10.1042\/BSR20160531","article-title":"Effect of APOL1 disease risk variants on APOL1 gene product","volume":"37","author":"Haque","year":"2017","journal-title":"Biosci. Rep."},{"key":"2021111618352996600_B11","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s00439-013-1352-x","article-title":"Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis","volume":"133","author":"Hardwick","year":"2014","journal-title":"Hum. Genet."},{"key":"2021111618352996600_B12","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.cell.2007.02.005","article-title":"Chromatin modifications and their function","volume":"128","author":"Kouzarides","year":"2007","journal-title":"Cell"},{"volume-title":"Gene Regulation: A Eukaryotic Perspective","year":"2005","author":"Latchman","key":"2021111618352996600_B13"},{"volume-title":"Molecular Cell Biology","year":"2013","author":"Lodish","key":"2021111618352996600_B14"},{"key":"2021111618352996600_B15","doi-asserted-by":"crossref","first-page":"2119","DOI":"10.1681\/ASN.2011010069","article-title":"APOL1 localization in normal kidney and nondiabetic kidney disease","volume":"22","author":"Madhavan","year":"2011","journal-title":"J. Am. Soc. Nephrol."},{"key":"2021111618352996600_B16","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1602\/neurorx.1.2.182","article-title":"Biomarkers: potential uses and limitations","volume":"1","author":"Mayeux","year":"2004","journal-title":"NeuroRx"},{"key":"2021111618352996600_B17","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nbt.2137","article-title":"Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay","volume":"30","author":"Melnikov","year":"2012","journal-title":"Nat. Biotechnol."},{"key":"2021111618352996600_B18","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1006\/geno.2002.6729","article-title":"The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue","volume":"79","author":"Monajemi","year":"2002","journal-title":"Genomics"},{"key":"2021111618352996600_B19","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1038\/nrg1829","article-title":"Genetic medicines: treatment strategies for hereditary disorders","volume":"7","author":"O\u2019Connor","year":"2006","journal-title":"Nat. Rev. Genet."},{"key":"2021111618352996600_B20","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1006\/geno.2001.6534","article-title":"The human apolipoprotein L gene cluster: identification, classification, and sites of distribution","volume":"74","author":"Page","year":"2001","journal-title":"Genomics"},{"key":"2021111618352996600_B21","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1126\/science.1114566","article-title":"Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes","volume":"309","author":"Perez-Morga","year":"2005","journal-title":"Science"},{"key":"2021111618352996600_B22","doi-asserted-by":"crossref","first-page":"E105","DOI":"10.3390\/molecules22010105","article-title":"Bioactive nutrients and nutrigenomics in age-related diseases","volume":"22","author":"Rescigno","year":"2017","journal-title":"Molecules"},{"key":"2021111618352996600_B23","doi-asserted-by":"crossref","first-page":"4433","DOI":"10.1007\/s00018-016-2299-6","article-title":"Mechanisms of viral mutation","volume":"73","author":"Sanjuan","year":"2016","journal-title":"Cell. Mol. Life Sci."},{"key":"2021111618352996600_B24","doi-asserted-by":"crossref","DOI":"10.1016\/B978-012699057-7\/50001-1","volume-title":"Molecular Medicine: Genomics to Personalized Healthcare","author":"Trent","year":"2005"},{"key":"2021111618352996600_B25","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1242\/dmm.013474","article-title":"Mechanisms of protein-folding diseases at a glance","volume":"7","author":"Valastyan","year":"2014","journal-title":"Dis. Model. Mech."},{"key":"2021111618352996600_B26","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/nature01461","article-title":"Apolipoprotein L-I is the trypanosome lytic factor of human serum","volume":"422","author":"Vanhamme","year":"2003","journal-title":"Nature"},{"key":"2021111618352996600_B27","doi-asserted-by":"crossref","first-page":"21540","DOI":"10.1074\/jbc.M800214200","article-title":"Apolipoprotein L1, a novel Bcl-2 homology domain 3-only lipid-binding protein, induces autophagic cell death","volume":"283","author":"Wan","year":"2008","journal-title":"J. Biol. Chem."}],"container-title":["Bioscience Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/portlandpress.com\/bioscirep\/article-pdf\/doi\/10.1042\/BSR20170647\/429934\/bsr-2017-0647c.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/portlandpress.com\/bioscirep\/article-pdf\/doi\/10.1042\/BSR20170647\/429934\/bsr-2017-0647c.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,16]],"date-time":"2021-11-16T19:01:34Z","timestamp":1637089294000},"score":1,"resource":{"primary":{"URL":"https:\/\/portlandpress.com\/bioscirep\/article\/37\/5\/BSR20170647\/56552\/Transcription-and-translation-of-APOL1-variants"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,11]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,10,31]]}},"URL":"https:\/\/doi.org\/10.1042\/bsr20170647","relation":{},"ISSN":["0144-8463","1573-4935"],"issn-type":[{"type":"print","value":"0144-8463"},{"type":"electronic","value":"1573-4935"}],"subject":[],"published":{"date-parts":[[2017,10,11]]},"article-number":"BSR20170647"}}