Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality.
biliary atresia
biliary morphogenesis
cilia
laterality
liver transplantation
Journal
Frontiers in physiology
ISSN: 1664-042X
Titre abrégé: Front Physiol
Pays: Switzerland
ID NLM: 101549006
Informations de publication
Date de publication:
2020
2020
Historique:
received:
03
06
2020
accepted:
23
09
2020
entrez:
16
11
2020
pubmed:
17
11
2020
medline:
17
11
2020
Statut:
epublish
Résumé
Infectious and genetic factors are invoked, respectively in isolated biliary atresia (BA), or syndromic BA, with major extrahepatic anomalies. However, isolated BA is also associated with minor extrahepatic gut and cardiovascular anomalies and multiple susceptibility genes, suggesting common origins. We investigated novel susceptibility genes with genome-wide association, targeted sequencing and tissue staining in BA requiring liver transplantation, independent of BA subtype. Candidate gene effects on morphogenesis, developmental pathways, and ciliogenesis, which regulates left-right patterning were investigated with zebrafish knockdown and mouse knockout models, mouse airway cell cultures, and liver transcriptome analysis. Single nucleotide polymorphisms in Mannosidase-1-α-2 ( BA requiring transplantation associates with sequence variants in
Sections du résumé
BACKGROUND/AIMS
OBJECTIVE
Infectious and genetic factors are invoked, respectively in isolated biliary atresia (BA), or syndromic BA, with major extrahepatic anomalies. However, isolated BA is also associated with minor extrahepatic gut and cardiovascular anomalies and multiple susceptibility genes, suggesting common origins.
METHODS
METHODS
We investigated novel susceptibility genes with genome-wide association, targeted sequencing and tissue staining in BA requiring liver transplantation, independent of BA subtype. Candidate gene effects on morphogenesis, developmental pathways, and ciliogenesis, which regulates left-right patterning were investigated with zebrafish knockdown and mouse knockout models, mouse airway cell cultures, and liver transcriptome analysis.
RESULTS
RESULTS
Single nucleotide polymorphisms in Mannosidase-1-α-2 (
CONCLUSION
CONCLUSIONS
BA requiring transplantation associates with sequence variants in
Identifiants
pubmed: 33192543
doi: 10.3389/fphys.2020.538701
pmc: PMC7662016
doi:
Types de publication
Journal Article
Langues
eng
Pagination
538701Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK101426
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK109365
Pays : United States
Informations de copyright
Copyright © 2020 So, Ningappa, Glessner, Min, Ashokkumar, Ranganathan, Higgs, Li, Sun, Schmitt, Biery, Dobrowolski, Trautz, Fuhrman, Schwartz, Klena, Fusco, Prasadan, Adenuga, Mohamed, Yan, Chen, Horne, Dhawan, Sharif, Kelly, Squires, Gittes, Hakonarson, Morell, Lo, Subramaniam, Shin and Sindhi.
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