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Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
A. Ashikov, N. Abu Bakar, XY. Wen, M. Niemeijer, G. Rodrigues Pinto Osorio, K. Brand-Arzamendi, L. Hasadsri, H. Hansikova, K. Raymond, D. Vicogne, N. Ondruskova, MEH. Simon, R. Pfundt, S. Timal, R. Beumers, C. Biot, R. Smeets, M. Kersten, K....
Language English Country England, Great Britain
Document type Journal Article, Research Support, Non-U.S. Gov't
Grant support
NV16-31932A
MZ0
CEP Register
Digital library NLK
Full text - Article
NLK
Free Medical Journals
from 1996 to 1 year ago
Open Access Digital Library
from 1996-01-01
PubMed
29878199
DOI
10.1093/hmg/ddy213
Knihovny.cz E-resources
- MeSH
- Zebrafish genetics growth & development metabolism MeSH
- Adult MeSH
- Exome MeSH
- Phenotype MeSH
- Fibroblasts metabolism pathology MeSH
- Calcification, Physiologic * MeSH
- Genomics * MeSH
- Glycomics * MeSH
- Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase deficiency MeSH
- Glycosylation MeSH
- Golgi Apparatus metabolism pathology MeSH
- Cohort Studies MeSH
- Infant MeSH
- Cells, Cultured MeSH
- Humans MeSH
- Young Adult MeSH
- Mutation * MeSH
- Organic Anion Transporters, Sodium-Dependent genetics metabolism MeSH
- Pedigree MeSH
- Symporters genetics metabolism MeSH
- Protein Transport MeSH
- Congenital Disorders of Glycosylation complications MeSH
- Bone Diseases, Developmental etiology metabolism pathology MeSH
- Animals MeSH
- Check Tag
- Adult MeSH
- Infant MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with high-throughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in singleton families of recessive inheritance. In a cohort of 99 individuals with abnormal Golgi glycosylation, 47 of which being unsolved, glycomics profiling was performed of total plasma glycoproteins. Combination with whole-exome sequencing in 31 cases revealed a known genetic defect in 15 individuals. To identify additional genetic factors, hierarchical clustering of the plasma glycomics data was done, which indicated a subgroup of four patients that shared a unique glycomics signature of hybrid type N-glycans. In two siblings, compound heterozygous mutations were found in SLC10A7, a gene of unknown function in human. These included a missense mutation that disrupted transmembrane domain 4 and a mutation in a splice acceptor site resulting in skipping of exon 9. The two other individuals showed a complete loss of SLC10A7 mRNA. The patients' phenotype consisted of amelogenesis imperfecta, skeletal dysplasia, and decreased bone mineral density compatible with osteoporosis. The patients' phenotype was mirrored in SLC10A7 deficient zebrafish. Furthermore, alizarin red staining of calcium deposits in zebrafish morphants showed a strong reduction in bone mineralization. Cell biology studies in fibroblasts of affected individuals showed intracellular mislocalization of glycoproteins and a defect in post-Golgi transport of glycoproteins to the cell membrane. In contrast to yeast, human SLC10A7 localized to the Golgi. Our combined data indicate an important role for SLC10A7 in bone mineralization and transport of glycoproteins to the extracellular matrix.
Department of Child Health University Hospital of Wales Cardiff UK
Department of Child Neurology University Hospital Stavanger Stavanger Norway
Department of Clinical Chemistry VU University Medical Center Amsterdam The Netherlands
Department of Clinical Genetics VU University Medical Center Amsterdam The Netherlands
Department of Enzymology and Cellular Function Institute of Child Health Athens Greece
Department of Genetics University Medical Center Utrecht Utrecht The Netherlands
Department of Human Genetics Radboud University Medical Center 6525 GA Nijmegen The Netherlands
Department of Metabolic Diseases University Medical Center Utrecht Utrecht The Netherlands
Department of Paediatrics Tawam Hospital Al Ain UAE
Department of Pediatrics Radboud University Medical Center 6525 GA Nijmegen The Netherlands
Department of Tumor Immunology Radboud University Medical Center 6525 GA Nijmegen The Netherlands
Genetics and Rare Diseases Research Division Bambino Gesù Children's Research Hospital Rome Italy
References provided by Crossref.org
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- $a Ashikov, Angel $u Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
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- $a Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation / $c A. Ashikov, N. Abu Bakar, XY. Wen, M. Niemeijer, G. Rodrigues Pinto Osorio, K. Brand-Arzamendi, L. Hasadsri, H. Hansikova, K. Raymond, D. Vicogne, N. Ondruskova, MEH. Simon, R. Pfundt, S. Timal, R. Beumers, C. Biot, R. Smeets, M. Kersten, K. Huijben, . , PTA. Linders, G. van den Bogaart, SAFT. van Hijum, R. Rodenburg, LP. van den Heuvel, F. van Spronsen, T. Honzik, F. Foulquier, M. van Scherpenzeel, DJ. Lefeber, . , W. Mirjam, B. Han, M. Helen, M. Helen, VH. Peter, VK. Jiddeke, M. Diego, M. Lars, BH. Katja, H. Jozef, A. Majid, C. Kevin, TWN. Johann,
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- $a Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with high-throughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in singleton families of recessive inheritance. In a cohort of 99 individuals with abnormal Golgi glycosylation, 47 of which being unsolved, glycomics profiling was performed of total plasma glycoproteins. Combination with whole-exome sequencing in 31 cases revealed a known genetic defect in 15 individuals. To identify additional genetic factors, hierarchical clustering of the plasma glycomics data was done, which indicated a subgroup of four patients that shared a unique glycomics signature of hybrid type N-glycans. In two siblings, compound heterozygous mutations were found in SLC10A7, a gene of unknown function in human. These included a missense mutation that disrupted transmembrane domain 4 and a mutation in a splice acceptor site resulting in skipping of exon 9. The two other individuals showed a complete loss of SLC10A7 mRNA. The patients' phenotype consisted of amelogenesis imperfecta, skeletal dysplasia, and decreased bone mineral density compatible with osteoporosis. The patients' phenotype was mirrored in SLC10A7 deficient zebrafish. Furthermore, alizarin red staining of calcium deposits in zebrafish morphants showed a strong reduction in bone mineralization. Cell biology studies in fibroblasts of affected individuals showed intracellular mislocalization of glycoproteins and a defect in post-Golgi transport of glycoproteins to the cell membrane. In contrast to yeast, human SLC10A7 localized to the Golgi. Our combined data indicate an important role for SLC10A7 in bone mineralization and transport of glycoproteins to the extracellular matrix.
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