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A BBS1 SVA F retrot...
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Delvallée, ClarisseLaboratoire de Génétique Médicale, Institut de génétique médicale d'Alsace IGMA, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg UMRS_1112, Strasbourg, France
(author)
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
- Article/chapterEnglish2021
Publisher, publication year, extent ...
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2020-11-14
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John Wiley & Sons,2021
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-428350
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-428350URI
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https://doi.org/10.1111/cge.13878DOI
Supplementary language notes
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Language:English
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Summary in:English
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Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored our cohorts and identified a hominid-specific SINE-R/VNTR/Alu type F (SVA-F) insertion in exon 13 of BBS1 in eight families. In six families, the repeat insertion was found in trans with c.1169 T > G, p.Met390Arg and in two families the insertion was found in addition to other recessive BBS loci. Whole genome sequencing, de novo assembly and SNP array analysis were performed to characterize the genomic event. This insertion is extremely rare in the general population (found in 8 alleles of 8 BBS cases but not in >10 800 control individuals from gnomAD-SV) and due to a founder effect. Its 2435 bp sequence contains hallmarks of LINE1 mediated retrotransposition. Functional studies with patient-derived cell lines confirmed that the BBS1 SVA-F is deleterious as evidenced by a significant depletion of both mRNA and protein levels. Such findings highlight the importance of dedicated bioinformatics pipelines to identify all types of variation.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Nicaise, SamuelLaboratoire de Génétique Médicale, Institut de génétique médicale d'Alsace IGMA, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg UMRS_1112, Strasbourg, France
(author)
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Antin, ManuelaLaboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
(author)
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Leuvrey, Anne-SophieLaboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
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Nourisson, ElsaLaboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
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Leitch, Carmen CAdvanced Center for Translational and Genetic Medicine (ACT‐GeM), Stanley Manne Children's Research Institute, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA
(author)
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Kellaris, GeorgiosAdvanced Center for Translational and Genetic Medicine (ACT‐GeM), Stanley Manne Children's Research Institute, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA
(author)
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Stoetzel, CorinneLaboratoire de Génétique Médicale, Institut de génétique médicale d'Alsace IGMA, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg UMRS_1112, Strasbourg, France
(author)
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Geoffroy, VéroniqueLaboratoire de Génétique Médicale, Institut de génétique médicale d'Alsace IGMA, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg UMRS_1112, Strasbourg, France
(author)
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Scheidecker, SophieLaboratoire de Génétique Médicale, Institut de génétique médicale d'Alsace IGMA, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg UMRS_1112, Strasbourg, France; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
(author)
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Keren, BorisInstitut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, Paris, France; AP‐HP, Hôpital de la Pitié‐Salpêtrière, Département de Génétique, Paris, France
(author)
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Depienne, ChristelInstitut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, Paris, France; Institute of Human Genetics, University Hospital Essen, University of Duisburg‐Essen, Essen, Germany
(author)
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Klar, Joakim,PhD,1974-Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab,Barnkirurgisk forskning(Swepub:uu)jkl27173
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Dahl, NiklasUppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik,Barnkirurgisk forskning(Swepub:uu)nikldahl
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Deleuze, Jean-FrançoisCentre National de Recherche en Génomique Humaine (CNRGH), Institut de biologie François Jacob, Evry, France
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Génin, EmmanuelleInserm UMR1078, CHRU Brest, Univ Brest, Brest, France
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Redon, RichardUniversité de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France
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Demurger, FlorenceService de Génétique Médicale, Centre Hospitalier Bretagne Atlantique, Vannes, France
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Devriendt, KoenraadCenter for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium
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Mathieu-Dramard, MichèleCentre d'activité de génétique clinique, CLAD nord de France, CHU Amiens, Amiens, France
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Poitou-Bernert, ChristineAssistance Publique Hôpitaux de Paris, Nutrition Department Pitié‐Salpêtrière Hospital; Sorbonne Université, INSERM, NutriOmics Research Unit, Paris, France
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Odent, SylvieCentre de Référence Maladies Rares CLAD‐Ouest, Service de Génétique Clinique, CHU Rennes, Rennes, France ; CNRS, IGDR (Institut de Génétique et Développement de Rennes) UMR 6290, Université de Rennes, Rennes, France
(author)
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Katsanis, NicholasAdvanced Center for Translational and Genetic Medicine (ACT‐GeM), Stanley Manne Children's Research Institute, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA
(author)
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Mandel, Jean-LouisLaboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U964, Université de Strasbourg, Dept Transl Med and Neurogenetics Illkirch, France
(author)
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Davis, Erica EAdvanced Center for Translational and Genetic Medicine (ACT‐GeM), Stanley Manne Children's Research Institute, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA
(author)
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Dollfus, HélèneLaboratoire de Génétique Médicale, Institut de génétique médicale d'Alsace IGMA, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg UMRS_1112, Strasbourg, France ; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France ; Filière SENSGENE, Centre de Référence pour les affections rares en génétique ophtalmologique, CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
(author)
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Muller, JeanLaboratoire de Génétique Médicale, Institut de génétique médicale d'Alsace IGMA, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg UMRS_1112, Strasbourg, France; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
(author)
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Laboratoire de Génétique Médicale, Institut de génétique médicale d'Alsace IGMA, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg UMRS_1112, Strasbourg, FranceLaboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
(creator_code:org_t)
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In:Clinical Genetics: John Wiley & Sons99:2, s. 318-3240009-91631399-0004
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Delvallée, Clari ...
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Nicaise, Samuel
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Antin, Manuela
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Leuvrey, Anne-So ...
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Nourisson, Elsa
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Leitch, Carmen C
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Kellaris, Georgi ...
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Stoetzel, Corinn ...
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Geoffroy, Véroni ...
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Scheidecker, Sop ...
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Keren, Boris
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Depienne, Christ ...
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Klar, Joakim, Ph ...
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Dahl, Niklas
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Deleuze, Jean-Fr ...
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Génin, Emmanuell ...
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Redon, Richard
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Demurger, Floren ...
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Devriendt, Koenr ...
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Mathieu-Dramard, ...
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Poitou-Bernert, ...
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Odent, Sylvie
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Katsanis, Nichol ...
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Davis, Erica E
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Dollfus, Hélène
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Muller, Jean
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