Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms

The etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in genes not previously associated with liver disease and validated their biological relevance in zebrafish and murine models. Whole-exome (n = 4) and candidate gene...

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Published inGastroenterology (New York, N.Y. 1943) Vol. 161; no. 1; pp. 287 - 300.e16
Main Authors Pham, Duc-Hung, Kudira, Ramesh, Xu, Lingfen, Valencia, C. Alexander, Ellis, Jillian L., Shi, Tiffany, Evason, Kimberley J., Osuji, Immaculeta, Matuschek, Nelson, Pfuhler, Liva, Mullen, Mary, Mohanty, Sujit K., Husami, Ammar, Bull, Laura N., Zhang, Kejian, Wali, Sami, Yin, Chunyue, Miethke, Alexander
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.07.2021
Subjects
Bile Duct Paucity
Mouse
Progressive Familial Intrahepatic Cholestasis
Zebrafish
ABC
WES
ALP
ALT
EtOH
mRNA
MRP
EGFP
bp
Progressive Familial Intrahepatic Cholestasis
GFP
TUNEL
Bile Duct Paucity
WT
CA
CRISPR
AST
BSEP
H&E
CK
Zebrafish
ChiLDReN
4-OHT
CCHMC
Mouse
GGT
PFIC
Anxa4
PCR
Online AccessGet full text

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Abstract The etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in genes not previously associated with liver disease and validated their biological relevance in zebrafish and murine models. Whole-exome (n = 4) and candidate gene sequencing (n = 89) was completed on 93 children with cholestasis and normal serum γ-glutamyl transferase (GGT) levels without pathogenic variants in genes known to cause low GGT cholestasis such as ABCB11 or ATP8B1. CRISPR (clustered regularly interspaced short palindromic repeats)/Cas9 genome editing was used to induce frameshift pathogenic variants in the candidate gene in zebrafish and mice. In a 1-year-old female patient with normal GGT cholestasis and bile duct paucity, we identified a homozygous truncating pathogenic variant (c.198delA, p.Gly67Alafs∗6) in the ABCC12 gene (NM_033226). Five additional rare ABCC12 variants, including a pathogenic one, were detected in our cohort. ABCC12 encodes multidrug resistance-associated protein 9 (MRP9) that belongs to the adenosine 5ʹ-triphosphate–binding cassette transporter C family with unknown function and no previous implication in liver disease. Immunohistochemistry and Western blotting revealed conserved MRP9 protein expression in the bile ducts in human, mouse, and zebrafish. Zebrafish abcc12-null mutants were prone to cholangiocyte apoptosis, which caused progressive bile duct loss during the juvenile stage. MRP9-deficient mice had fewer well-formed interlobular bile ducts and higher serum alkaline phosphatase levels compared with wild-type mice. They exhibited aggravated cholangiocyte apoptosis, hyperbilirubinemia, and liver fibrosis upon cholic acid challenge. Our work connects MRP9 with bile duct homeostasis and cholestatic liver disease for the first time. It identifies a potential therapeutic target to attenuate bile acid-induced cholangiocyte injury. [Display omitted] ABCC12 encodes multidrug resistance-associated protein 9 that is important for maintaining cholangiocyte health in zebrafish and mice. Pathogenic variants in this gene are associated with intrahepatic bile duct loss in patients with chronic cholestasis.
AbstractList ABCC12 encodes MRP9 protein that is important for maintaining cholangiocyte health in zebrafish and mice. Pathogenic variants in this gene are associated with intrahepatic bile duct loss in patients with chronic cholestasis.
The etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in genes not previously associated with liver disease and validated their biological relevance in zebrafish and murine models. Whole-exome (n = 4) and candidate gene sequencing (n = 89) was completed on 93 children with cholestasis and normal serum γ-glutamyl transferase (GGT) levels without pathogenic variants in genes known to cause low GGT cholestasis such as ABCB11 or ATP8B1. CRISPR (clustered regularly interspaced short palindromic repeats)/Cas9 genome editing was used to induce frameshift pathogenic variants in the candidate gene in zebrafish and mice. In a 1-year-old female patient with normal GGT cholestasis and bile duct paucity, we identified a homozygous truncating pathogenic variant (c.198delA, p.Gly67Alafs∗6) in the ABCC12 gene (NM_033226). Five additional rare ABCC12 variants, including a pathogenic one, were detected in our cohort. ABCC12 encodes multidrug resistance-associated protein 9 (MRP9) that belongs to the adenosine 5'-triphosphate-binding cassette transporter C family with unknown function and no previous implication in liver disease. Immunohistochemistry and Western blotting revealed conserved MRP9 protein expression in the bile ducts in human, mouse, and zebrafish. Zebrafish abcc12-null mutants were prone to cholangiocyte apoptosis, which caused progressive bile duct loss during the juvenile stage. MRP9-deficient mice had fewer well-formed interlobular bile ducts and higher serum alkaline phosphatase levels compared with wild-type mice. They exhibited aggravated cholangiocyte apoptosis, hyperbilirubinemia, and liver fibrosis upon cholic acid challenge. Our work connects MRP9 with bile duct homeostasis and cholestatic liver disease for the first time. It identifies a potential therapeutic target to attenuate bile acid-induced cholangiocyte injury.
BACKGROUND & AIMSThe etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in genes not previously associated with liver disease and validated their biological relevance in zebrafish and murine models. METHODWhole-exome (n = 4) and candidate gene sequencing (n = 89) was completed on 93 children with cholestasis and normal serum γ-glutamyl transferase (GGT) levels without pathogenic variants in genes known to cause low GGT cholestasis such as ABCB11 or ATP8B1. CRISPR (clustered regularly interspaced short palindromic repeats)/Cas9 genome editing was used to induce frameshift pathogenic variants in the candidate gene in zebrafish and mice. RESULTSIn a 1-year-old female patient with normal GGT cholestasis and bile duct paucity, we identified a homozygous truncating pathogenic variant (c.198delA, p.Gly67Alafs∗6) in the ABCC12 gene (NM_033226). Five additional rare ABCC12 variants, including a pathogenic one, were detected in our cohort. ABCC12 encodes multidrug resistance-associated protein 9 (MRP9) that belongs to the adenosine 5'-triphosphate-binding cassette transporter C family with unknown function and no previous implication in liver disease. Immunohistochemistry and Western blotting revealed conserved MRP9 protein expression in the bile ducts in human, mouse, and zebrafish. Zebrafish abcc12-null mutants were prone to cholangiocyte apoptosis, which caused progressive bile duct loss during the juvenile stage. MRP9-deficient mice had fewer well-formed interlobular bile ducts and higher serum alkaline phosphatase levels compared with wild-type mice. They exhibited aggravated cholangiocyte apoptosis, hyperbilirubinemia, and liver fibrosis upon cholic acid challenge. CONCLUSIONSOur work connects MRP9 with bile duct homeostasis and cholestatic liver disease for the first time. It identifies a potential therapeutic target to attenuate bile acid-induced cholangiocyte injury.
The etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in genes not previously associated with liver disease and validated their biological relevance in zebrafish and murine models. Whole-exome (n = 4) and candidate gene sequencing (n = 89) was completed on 93 children with cholestasis and normal serum γ-glutamyl transferase (GGT) levels without pathogenic variants in genes known to cause low GGT cholestasis such as ABCB11 or ATP8B1. CRISPR (clustered regularly interspaced short palindromic repeats)/Cas9 genome editing was used to induce frameshift pathogenic variants in the candidate gene in zebrafish and mice. In a 1-year-old female patient with normal GGT cholestasis and bile duct paucity, we identified a homozygous truncating pathogenic variant (c.198delA, p.Gly67Alafs∗6) in the ABCC12 gene (NM_033226). Five additional rare ABCC12 variants, including a pathogenic one, were detected in our cohort. ABCC12 encodes multidrug resistance-associated protein 9 (MRP9) that belongs to the adenosine 5ʹ-triphosphate–binding cassette transporter C family with unknown function and no previous implication in liver disease. Immunohistochemistry and Western blotting revealed conserved MRP9 protein expression in the bile ducts in human, mouse, and zebrafish. Zebrafish abcc12-null mutants were prone to cholangiocyte apoptosis, which caused progressive bile duct loss during the juvenile stage. MRP9-deficient mice had fewer well-formed interlobular bile ducts and higher serum alkaline phosphatase levels compared with wild-type mice. They exhibited aggravated cholangiocyte apoptosis, hyperbilirubinemia, and liver fibrosis upon cholic acid challenge. Our work connects MRP9 with bile duct homeostasis and cholestatic liver disease for the first time. It identifies a potential therapeutic target to attenuate bile acid-induced cholangiocyte injury. [Display omitted] ABCC12 encodes multidrug resistance-associated protein 9 that is important for maintaining cholangiocyte health in zebrafish and mice. Pathogenic variants in this gene are associated with intrahepatic bile duct loss in patients with chronic cholestasis.
Author Shi, Tiffany
Pfuhler, Liva
Miethke, Alexander
Bull, Laura N.
Pham, Duc-Hung
Husami, Ammar
Kudira, Ramesh
Mullen, Mary
Matuschek, Nelson
Mohanty, Sujit K.
Xu, Lingfen
Zhang, Kejian
Wali, Sami
Valencia, C. Alexander
Ellis, Jillian L.
Evason, Kimberley J.
Osuji, Immaculeta
Yin, Chunyue
AuthorAffiliation 3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA
12 Division of Developmental Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA
4 Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
8 Department of Pediatric and Thoracic Surgery, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA
10 Mount Sinai Genomics, New York, New York, USA
11 Prince Sultan Military Medical City, Pediatric Gastroenterology, Riyadh, Saudi Arabia
1 Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA
2 Shengjing Hospital of China Medical University, Pediatric Gastroenterology, Shenyang, China
6 Aperiomics, Inc., Sterling, Virginia, USA
5 Lake Erie College of Osteopathic Medicine, Erie, Pennsylvania, USA
9 Liver Center Laboratory, Department of Medicine and Institute for Human Genetics, University of California San Franci
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/33771553$$D View this record in MEDLINE/PubMed
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Issue 1
Keywords ABC
WES
ALP
ALT
EtOH
mRNA
MRP
EGFP
bp
Progressive Familial Intrahepatic Cholestasis
GFP
TUNEL
Bile Duct Paucity
WT
CA
CRISPR
AST
BSEP
H&E
CK
Zebrafish
ChiLDReN
4-OHT
CCHMC
Mouse
GGT
PFIC
Anxa4
PCR
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Duc-Hung Pham, PhD (Conceptualization: Supporting; Data curation: Lead; Formal analysis: Lead; Investigation: Lead; Methodology: Lead; Validation: Lead; Writing – original draft preparation: Lead). Ramesh Kudira, PhD (Conceptualization: Supporting; Data curation: Lead; Formal analysis: Lead; Investigation: Lead; Methodology: Lead; Validation: Lead; Writing – revision draft: Lead). Lingfen Xu, MD (Investigation: Supporting; Methodology: Supporting; Validation: Supporting; Writing – original draft preparation: Supporting). C. Alexander Valencia, PhD (Conceptualization: Supporting; Data curation: Lead; Formal analysis: Lead; Investigation: Supporting; Methodology: Supporting; Writing - original draft preparation: Supporting). Jillian L. Ellis, MS (Formal analysis: Supporting; Investigation: Supporting; Validation: Supporting; Methodology: Supporting; Writing – review and editing: Supporting). Tiffany Shi, BS (Formal analysis: Supporting; Investigation: Supporting). Kimberley J. Evason, MD/PhD (Formal analysis: Supporting). Immaculeta Osuji, MS (Investigation: Supporting). Nelson Matuschek, MS (Formal analysis: Supporting; Investigation: Supporting). Liva Pfuhler, (Investigation: Supporting). Mary Mullen, PhD (Investigation: Supporting), Sujit K. Mohanty, PhD (Investigation: Supporting). Ammar Husami, BS (Data curation: Supporting; Formal analysis: Supporting; Investigation: Supporting; Writing – review and editing: Supporting). Laura N. Bull, PhD (Formal analysis: Supporting; Writing – review and editing: Supporting). Kejian Zhang, PhD (Conceptualization: Supporting; Formal analysis: Supporting; Methodology: Supporting; Resources: Supporting; Writing – review and editing: Supporting). Sami Wali, MD (Conceptualization: Supporting; Resources: Supporting). Chunyue Yin, PhD (Conceptualization: Lead; Formal analysis: Supporting; Investigation: Supporting; Resources: Lead; Data Curation: Supporting; Writing – original draft preparation: Lead; Writing – review and editing: Lead; Supervision: Lead; Project administration: Lead; Funding acquisition: Lead). Alexander Miethke, MD (Conceptualization: Lead; Formal analysis: Supporting; Investigation: Supporting; Resources: Lead; Data Curation: Supporting; Writing – original draft preparation: Lead; Writing – review and editing: Lead; Supervision: Lead; Project administration: Lead; Funding acquisition: Lead).
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Snippet The etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in genes not previously...
BACKGROUND & AIMSThe etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in...
ABCC12 encodes MRP9 protein that is important for maintaining cholangiocyte health in zebrafish and mice. Pathogenic variants in this gene are associated with...
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StartPage 287
SubjectTerms Bile Duct Paucity
Mouse
Progressive Familial Intrahepatic Cholestasis
Zebrafish
Title Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms
URI https://dx.doi.org/10.1053/j.gastro.2021.03.026
https://www.ncbi.nlm.nih.gov/pubmed/33771553
https://search.proquest.com/docview/2506279502
https://pubmed.ncbi.nlm.nih.gov/PMC8238842
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