Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation
Biliary atresia is a fibroinflammatory neonatal disease with no effective therapies. A subset of cases (10-20%) is associated with laterality defects - labeled biliary atresia splenic malformation (BASM) syndrome. Recently, whole-exome sequencing of patients with BASM identified deleterious variants...
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| Published in | Disease models & mechanisms Vol. 16; no. 10 |
|---|---|
| Main Authors | , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
The Company of Biologists Ltd
01.10.2023
The Company of Biologists |
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| Abstract | Biliary atresia is a fibroinflammatory neonatal disease with no effective therapies. A subset of cases (10-20%) is associated with laterality defects - labeled biliary atresia splenic malformation (BASM) syndrome. Recently, whole-exome sequencing of patients with BASM identified deleterious variants in PKD1L1. PKD1L1 is involved in left-right axis determination; however, its role in cholangiocytes is unknown. We generated the pkd1l1hsc117 allele using CRISPR/Cas9 mutagenesis in zebrafish to determine the role of Pkd1l1 in biliary development and function. Wild-type and mutant larvae were assessed for laterality defects, biliary function and biliary tree architecture at 5 days post fertilization. pkd1l1hsc117 mutant larvae exhibited early left-right patterning defects. The gallbladder was positioned on the left in 47% of mutants compared to 4% of wild-type larvae. Accumulation of PED6 in the gallbladder, an indicator of hepatobiliary function, was significantly reduced in pkd1l1hsc117 mutants (46%) compared to wild-type larvae (4%). pkd1l1hsc117 larvae exhibited fewer biliary epithelial cells and reduced density of the intrahepatic biliary network compared to those in wild-type larvae. These data highlight the essential role of pkd1l1 in normal development and function of the zebrafish biliary system, supporting a role for this gene as a cause of BASM. |
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| AbstractList | Biliary atresia is a fibroinflammatory neonatal disease with no effective therapies. A subset of cases (10-20%) is associated with laterality defects – labeled biliary atresia splenic malformation (BASM) syndrome. Recently, whole-exome sequencing of patients with BASM identified deleterious variants in PKD1L1. PKD1L1 is involved in left-right axis determination; however, its role in cholangiocytes is unknown. We generated the pkd1l1hsc117 allele using CRISPR/Cas9 mutagenesis in zebrafish to determine the role of Pkd1l1 in biliary development and function. Wild-type and mutant larvae were assessed for laterality defects, biliary function and biliary tree architecture at 5 days post fertilization. pkd1l1hsc117 mutant larvae exhibited early left-right patterning defects. The gallbladder was positioned on the left in 47% of mutants compared to 4% of wild-type larvae. Accumulation of PED6 in the gallbladder, an indicator of hepatobiliary function, was significantly reduced in pkd1l1hsc117 mutants (46%) compared to wild-type larvae (4%). pkd1l1hsc117 larvae exhibited fewer biliary epithelial cells and reduced density of the intrahepatic biliary network compared to those in wild-type larvae. These data highlight the essential role of pkd1l1 in normal development and function of the zebrafish biliary system, supporting a role for this gene as a cause of BASM. Biliary atresia is a fibroinflammatory neonatal disease with no effective therapies. A subset of cases (10-20%) is associated with laterality defects – labeled biliary atresia splenic malformation (BASM) syndrome. Recently, whole-exome sequencing of patients with BASM identified deleterious variants in PKD1L1 . PKD1L1 is involved in left-right axis determination; however, its role in cholangiocytes is unknown. We generated the pkd1l1 hsc117 allele using CRISPR/Cas9 mutagenesis in zebrafish to determine the role of Pkd1l1 in biliary development and function. Wild-type and mutant larvae were assessed for laterality defects, biliary function and biliary tree architecture at 5 days post fertilization. pkd1l1 hsc117 mutant larvae exhibited early left-right patterning defects. The gallbladder was positioned on the left in 47% of mutants compared to 4% of wild-type larvae. Accumulation of PED6 in the gallbladder, an indicator of hepatobiliary function, was significantly reduced in pkd1l1 hsc117 mutants (46%) compared to wild-type larvae (4%). pkd1l1 hsc117 larvae exhibited fewer biliary epithelial cells and reduced density of the intrahepatic biliary network compared to those in wild-type larvae. These data highlight the essential role of pkd1l1 in normal development and function of the zebrafish biliary system, supporting a role for this gene as a cause of BASM. Summary: PKD1L1 -linked biliary atresia is a serious childhood liver disease with no effective therapies. Deletion of zebrafish pkd1l1 results in impaired function and abnormal development of bile ducts in the liver. Biliary atresia is a fibroinflammatory neonatal disease with no effective therapies. A subset of cases (10-20%) is associated with laterality defects - labeled biliary atresia splenic malformation (BASM) syndrome. Recently, whole-exome sequencing of patients with BASM identified deleterious variants in PKD1L1. PKD1L1 is involved in left-right axis determination; however, its role in cholangiocytes is unknown. We generated the pkd1l1hsc117 allele using CRISPR/Cas9 mutagenesis in zebrafish to determine the role of Pkd1l1 in biliary development and function. Wild-type and mutant larvae were assessed for laterality defects, biliary function and biliary tree architecture at 5 days post fertilization. pkd1l1hsc117 mutant larvae exhibited early left-right patterning defects. The gallbladder was positioned on the left in 47% of mutants compared to 4% of wild-type larvae. Accumulation of PED6 in the gallbladder, an indicator of hepatobiliary function, was significantly reduced in pkd1l1hsc117 mutants (46%) compared to wild-type larvae (4%). pkd1l1hsc117 larvae exhibited fewer biliary epithelial cells and reduced density of the intrahepatic biliary network compared to those in wild-type larvae. These data highlight the essential role of pkd1l1 in normal development and function of the zebrafish biliary system, supporting a role for this gene as a cause of BASM.Biliary atresia is a fibroinflammatory neonatal disease with no effective therapies. A subset of cases (10-20%) is associated with laterality defects - labeled biliary atresia splenic malformation (BASM) syndrome. Recently, whole-exome sequencing of patients with BASM identified deleterious variants in PKD1L1. PKD1L1 is involved in left-right axis determination; however, its role in cholangiocytes is unknown. We generated the pkd1l1hsc117 allele using CRISPR/Cas9 mutagenesis in zebrafish to determine the role of Pkd1l1 in biliary development and function. Wild-type and mutant larvae were assessed for laterality defects, biliary function and biliary tree architecture at 5 days post fertilization. pkd1l1hsc117 mutant larvae exhibited early left-right patterning defects. The gallbladder was positioned on the left in 47% of mutants compared to 4% of wild-type larvae. Accumulation of PED6 in the gallbladder, an indicator of hepatobiliary function, was significantly reduced in pkd1l1hsc117 mutants (46%) compared to wild-type larvae (4%). pkd1l1hsc117 larvae exhibited fewer biliary epithelial cells and reduced density of the intrahepatic biliary network compared to those in wild-type larvae. These data highlight the essential role of pkd1l1 in normal development and function of the zebrafish biliary system, supporting a role for this gene as a cause of BASM. |
| Author | David-Rachel, Marie Ali, Rouknuddin Q Karpen, Saul J Ghanekar, Anand Ciruna, Brian Kamath, Binita M Meyer-Miner, Anne Wilkins, Benjamin J Lee, Fiona J H |
| AuthorAffiliation | 3 Department of Pathology and Laboratory Medicine , The Children's Hospital of Philadelphia , Philadelphia, PA 19104 , USA 4 Department of Pediatrics Emory , University School of Medicine and Children's Healthcare of Atlanta , Atlanta, GA 30322 , USA 1 Program in Developmental & Stem Cell Biology , The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada 9 Department of Pediatrics , University of Toronto , Toronto, ON M5G 1X8 , Canada 8 Division of Gastroenterology , Hepatology and Nutrition, The Hospital for Sick Children , Toronto, ON M5G 1X8 , Canada 5 Division of General Surgery , University Health Network, Toronto, ON M5C 2C4 , Canada 6 Department of Surgery, The Hospital for Sick Children, Toronto, ON M5G 1X8 , Canada 7 Department of Surgery , University of Toronto , Toronto, ON M5T 1P5 , Canada 2 Department of Molecular Genetics , The University of Toronto , Toronto, ON M5S 1A8 , Canada |
| AuthorAffiliation_xml | – name: 3 Department of Pathology and Laboratory Medicine , The Children's Hospital of Philadelphia , Philadelphia, PA 19104 , USA – name: 4 Department of Pediatrics Emory , University School of Medicine and Children's Healthcare of Atlanta , Atlanta, GA 30322 , USA – name: 9 Department of Pediatrics , University of Toronto , Toronto, ON M5G 1X8 , Canada – name: 1 Program in Developmental & Stem Cell Biology , The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada – name: 2 Department of Molecular Genetics , The University of Toronto , Toronto, ON M5S 1A8 , Canada – name: 5 Division of General Surgery , University Health Network, Toronto, ON M5C 2C4 , Canada – name: 7 Department of Surgery , University of Toronto , Toronto, ON M5T 1P5 , Canada – name: 8 Division of Gastroenterology , Hepatology and Nutrition, The Hospital for Sick Children , Toronto, ON M5G 1X8 , Canada – name: 6 Department of Surgery, The Hospital for Sick Children, Toronto, ON M5G 1X8 , Canada |
| Author_xml | – sequence: 1 givenname: Rouknuddin Q orcidid: 0000-0002-8153-3268 surname: Ali fullname: Ali, Rouknuddin Q organization: Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada – sequence: 2 givenname: Anne surname: Meyer-Miner fullname: Meyer-Miner, Anne organization: Department of Molecular Genetics, The University of Toronto, Toronto, ON M5S 1A8, Canada – sequence: 3 givenname: Marie surname: David-Rachel fullname: David-Rachel, Marie organization: Department of Molecular Genetics, The University of Toronto, Toronto, ON M5S 1A8, Canada – sequence: 4 givenname: Fiona J H surname: Lee fullname: Lee, Fiona J H organization: Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada – sequence: 5 givenname: Benjamin J surname: Wilkins fullname: Wilkins, Benjamin J organization: Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA – sequence: 6 givenname: Saul J surname: Karpen fullname: Karpen, Saul J organization: Department of Pediatrics Emory, University School of Medicine and Children's Healthcare of Atlanta, Atlanta, GA 30322, USA – sequence: 7 givenname: Brian surname: Ciruna fullname: Ciruna, Brian organization: Department of Molecular Genetics, The University of Toronto, Toronto, ON M5S 1A8, Canada – sequence: 8 givenname: Anand surname: Ghanekar fullname: Ghanekar, Anand organization: Department of Surgery, University of Toronto, Toronto, ON M5T 1P5, Canada – sequence: 9 givenname: Binita M orcidid: 0000-0002-9982-5023 surname: Kamath fullname: Kamath, Binita M organization: Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/37675454$$D View this record in MEDLINE/PubMed |
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| Keywords | Ciliopathy PED6 CRISPR/Cas9 Laterality Bile duct |
| Language | English |
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| Title | Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation |
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