Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis.
Enrichment analysis
Exome sequencing
Gene ontology
Prenatal diagnosis
Renal agenesis
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Oct 2021
Oct 2021
Historique:
received:
24
12
2020
accepted:
24
06
2021
entrez:
13
12
2021
pubmed:
14
12
2021
medline:
14
12
2021
Statut:
ppublish
Résumé
Uni- or bilateral renal agenesis (RA) is a commonly occurring major congenital anomaly impacting fetal and neonatal outcomes. Since the etiology is highly heterogeneous, our aim was to provide a logically structured approach by highlighting the genes in which variants have been identified to be associated with RA and to define the pathways involved in this type of abnormal kidney development. We used Phenolyzer to collect a list of all the genes known as causative for RA. Using ClueGO gene enrichment analysis, we classified the relationship between these genes and the biological processes defined by gene ontology. We identified 287 genes and 69 groups of enriched biological processes. About 50% included pathways directly related to the development of urogenital organ tissues. Several ciliary, axis specification, hindgut development, and endocrine pathways were enriched, which may relate to different clinical presentations of RA. Our gene ontology enrichment analysis shows that genes representing distinct biological pathways are significantly enriched. This knowledge will lead to an improved molecular diagnosis in clinical care when applying genome-wide sequencing approaches. The findings will also allow to further study the biological pathways involved in RA and to identify novel candidate genes and pathways.
Identifiants
pubmed: 34899145
doi: 10.1159/000518115
pii: msy-0012-0362
pmc: PMC8613581
doi:
Types de publication
Journal Article
Langues
eng
Pagination
362-371Informations de copyright
Copyright © 2021 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Nucleic Acids Res. 2019 Jan 8;47(D1):D559-D563
pubmed: 30357367
J Ultrasound Med. 1990 Dec;9(12):691-6
pubmed: 2277397
N Engl J Med. 2019 Jan 10;380(2):142-151
pubmed: 30586318
Mol Syndromol. 2016 Jul;7(3):101-9
pubmed: 27587986
Nat Methods. 2015 Sep;12(9):841-3
pubmed: 26192085
Nat Genet. 2019 Jan;51(1):117-127
pubmed: 30578417
Pediatr Nephrol. 2007 Oct;22(10):1675-84
pubmed: 17437132
Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):310-326
pubmed: 31369690
Am J Kidney Dis. 2014 Jul;64(1):119-22
pubmed: 24583054
Curr Opin Genet Dev. 2019 Jun;56:49-60
pubmed: 31419725
Indian Pediatr. 2007 Apr;44(4):301-3
pubmed: 17468528
Trends Biochem Sci. 2011 Jun;36(6):293-7
pubmed: 21269834
Pediatr Res. 2019 Jan;85(1):13-19
pubmed: 30287891
G Ital Nefrol. 2015;32 Suppl 64:
pubmed: 26479062
J Urol. 1993 Aug;150(2 Pt 2):793-4
pubmed: 8326648
PLoS Comput Biol. 2018 Jan 29;14(1):e1005968
pubmed: 29377902
Am J Med Genet A. 2018 Jul;176(7):1610-1613
pubmed: 29704304
Pediatr Nephrol. 2011 Jul;26(7):1039-56
pubmed: 21210154
PLoS One. 2010 Aug 25;5(8):e12375
pubmed: 20811621
J Genet Genomics. 2016 Mar 20;43(3):107-20
pubmed: 27020031
Bioinformatics. 2009 Apr 15;25(8):1091-3
pubmed: 19237447
Obstet Gynecol. 2013 Dec;122(6):1160-7
pubmed: 24201688
Radiology. 1986 Oct;161(1):27-9
pubmed: 3532181
PLoS Genet. 2016 Mar 11;12(3):e1005894
pubmed: 26967905
Prenat Diagn. 2019 Aug;39(9):679-692
pubmed: 31343747
J Coll Physicians Surg Pak. 2015 Apr;25 Suppl 1:S56-7
pubmed: 25933467
Am J Nephrol. 2017;46(1):55-63
pubmed: 28618409
Development. 2012 May;139(10):1777-87
pubmed: 22461562
Clin Genet. 2014 Sep;86(3):220-8
pubmed: 24128419
Nucleic Acids Res. 2016 Jan 4;44(D1):D488-94
pubmed: 26481357
Nucleic Acids Res. 2019 Jan 8;47(D1):D330-D338
pubmed: 30395331