Polymorphic pseudogenes in the human genome - a comprehensive assessment

Abadie V, Lyonnet S, Maurin N, Berthelon M, Caillaud C, Giraud F, Mattei JF, Rey J, Rey F, Munnich A (1989) CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 5:936–939

Article  CAS  PubMed  Google Scholar 

Abascal F, Juan D, Jungreis I, Kellis M, Martinez L, Rigau M, Rodriguez JM, Vazquez J, Tress ML (2018) Loose ends: almost one in five human genes still have unresolved coding status. Nucleic Acids Res 46:7070–7084

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abul-Husn NS, Cheng X, Li AH, Xin Y, Schurmann C, Stevis P, Liu Y, Kozlitina J, Stender S, Wood GC et al (2018) A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease. N Engl J Med 378:1096–1106

Article  CAS  PubMed  PubMed Central  Google Scholar 

Agrawal A, Balcı H, Hanspers K, Coort SL, Martens M, Slenter DN, Ehrhart F, Digles D, Waagmeester A, Wassink I et al (2023) WikiPathways 2024: next generation pathway database. Nucleic Acids Res

Amaral P, Carbonell-Sala S, De La Vega FM, Faial T, Frankish A, Gingeras T, Guigo R, Harrow JL, Hatzigeorgiou AG, Johnson R et al (2023) The status of the human gene catalogue. Nature 622:41–47

Article  CAS  PubMed  PubMed Central  Google Scholar 

Aston KI, Krausz C, Laface I, Ruiz-Castané E, Carrell DT (2010) Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Hum Reprod 25:1383–1397

Article  CAS  PubMed  Google Scholar 

Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR (2015) A global reference for human genetic variation. Nature 526:68–74

Article  PubMed  Google Scholar 

Bartha I, di Iulio J, Venter JC, Telenti A (2018) Human gene essentiality. Nat Rev Genet 19:51–62

Article  CAS  PubMed  Google Scholar 

Bear Daniel M, Lassance J-M, Hoekstra Hopi E, Datta Sandeep R (2016) The Evolving Neural and Genetic Architecture of Vertebrate Olfaction. Curr Biol 26:R1039–R1049

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bohnekamp J, Böselt I, Saalbach A, Tönjes A, Kovacs P, Biebermann H, Manvelyan HM, Polte T, Gasperikova D, Lkhagvasuren S et al (2010) Involvement of the chemokine-like receptor GPR33 in innate immunity. Biochem Biophys Res Commun 396:272–277

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brown GR, Hem V, Katz KS, Ovetsky M, Wallin C, Ermolaeva O, Tolstoy I, Tatusova T, Pruitt KD, Maglott DR, Murphy TD (2014) Gene: a gene-centered information resource at NCBI. Nucleic Acids Res 43:D36–D42

Article  PubMed  PubMed Central  Google Scholar 

Buhler MM, Craig M, Donaghue KC, Badhwar P, Willis J, Manolios N, Tait BD, Silink M, Bennetts BH, Stewart GJ (2002) CCR5 Genotyping in an Australian and New Zealand Type 1 Diabetes Cohort. Autoimmunity 35:457–461

Article  CAS  PubMed  Google Scholar 

Camolotto S, Racca A, Rena V, Nores R, Patrito LC, Genti-Raimondi S, Panzetta-Dutari GM (2010) Expression and Transcriptional Regulation of Individual Pregnancy-specific Glycoprotein Genes in Differentiating Trophoblast Cells. Placenta 31:312–319

Article  CAS  PubMed  Google Scholar 

Consortium G (2015) Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Sci (New York NY) 348:648–660

Article  Google Scholar 

Cooper DN, Mort M, Stenson PD, Ball EV, Chuzhanova NA (2010) Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides. Hum Genomics 4:406

Article  CAS  PubMed  PubMed Central  Google Scholar 

Crasto C, Marenco L, Miller P, Shepherd G (2002) Olfactory Receptor Database: a metadata-driven automated population from sources of gene and protein sequences. Nucleic Acids Res 30:354–360

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dadley-Moore D (2004) Caspase-12: the long and the short of it. Nat Rev Immunol 4:402–402

Article  CAS  Google Scholar 

Demkow U (2016) Chap. 11 - Next Generation Sequencing in Pharmacogenomics. In Clinical Applications for Next-Generation Sequencing. Edited by Demkow U, Płoski R. Boston: Academic Press;: 217–240

El-Brolosy MA, Stainier DYR (2017) Genetic compensation: A phenomenon in search of mechanisms. PLoS Genet 13:e1006780

Article  PubMed  PubMed Central  Google Scholar 

Elliott AM, Foster SD (1996) Thiacetazone: time to call a halt? Considerations on the use of thiacetazone in African populations with a high prevalence of human immunodeficiency virus infection. Tuber Lung Dis 77:27–29

Article  CAS  PubMed  Google Scholar 

Evangelista JE, Xie Z, Marino GB, Nguyen N, Clarke Daniel JB, Ma’ayan A (2023) Enrichr-KG: bridging enrichment analysis across multiple libraries. Nucleic Acids Res 51:W168–W179

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fairley S, Lowy-Gallego E, Perry E, Flicek P (2019) The International Genome Sample Resource (IGSR) collection of open human genomic variation resources. Nucleic Acids Res 48:D941–D947

Article  PubMed Central  Google Scholar 

Fischer H, Koenig U, Eckhart L, Tschachler E (2002) Human caspase 12 has acquired deleterious mutations. Biochem Biophys Res Commun 293:722–726

Article  CAS  PubMed  Google Scholar 

Flegel WA (2007) The genetics of the Rhesus blood group system. Blood Transfus 5:50–57

PubMed  PubMed Central  Google Scholar 

Flegel C, Vogel F, Hofreuter A, Schreiner BSP, Osthold S, Veitinger S, Becker C, Brockmeyer NH, Muschol M, Wennemuth G et al (2016) Characterization of the Olfactory Receptors Expressed in Human Spermatozoa. Front Mol Biosci 2

Francois AA, Nishida CR, de Montellano PR, Phillips IR, Shephard EA (2009) Human flavin-containing monooxygenase 2.1 catalyzes oxygenation of the antitubercular drugs thiacetazone and ethionamide. Drug Metab Dispos 37:178–186

Article  CAS  PubMed  Google Scholar 

Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, Weber BH (2008) Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet 40:892–896

Article  CAS  PubMed  Google Scholar 

Gagneux S (2012) Host-pathogen coevolution in human tuberculosis. Philos Trans R Soc Lond B Biol Sci 367:850–859

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gillespie M, Jassal B, Stephan R, Milacic M, Rothfels K, Senff-Ribeiro A, Griss J, Sevilla C, Matthews L, Gong C et al (2021) The reactome pathway knowledgebase 2022. Nucleic Acids Res 50:D687–D692

Article  PubMed Central  Google Scholar 

Glass WG, McDermott DH, Lim JK, Lekhong S, Yu SF, Frank WA, Pape J, Cheshier RC, Murphy PM (2006) CCR5 deficiency increases risk of symptomatic West Nile virus infection. J Exp Med 203:35–40

Article  CAS  PubMed  PubMed Central  Google Scholar 

Glusman G, Yanai I, Rubin I, Lancet D (2001) The complete human olfactory subgenome. Genome Res 11:685–702

Article  CAS  PubMed  Google Scholar 

Goulding C, McManus R, Murphy A, MacDonald G, Barrett S, Crowe J, Hegarty J, McKiernan S, Kelleher D (2005) The CCR5-delta32 mutation: impact on disease outcome in individuals with hepatitis C infection from a single source. Gut 54:1157–1161

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gu X (2003) Evolution of duplicate genes versus genetic robustness against null mutations. Trends Genet 19:354–356

Article  CAS 

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