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Genetic and functional insights into CDA-I prevalence and pathogenesis

Olijnik, Aude-Anais (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.
Roy, Noemi B. A. (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.;Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, England.;John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford, England.;John Radcliffe Hosp, BRC NHS Translat Mol Diagnost Ctr, Oxford, England.
Scott, Caroline (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.
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Marsh, Joseph A. (author)
Univ Edinburgh, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland.
Brown, Jill (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.
Lauschke, Karin (author)
Univ Copenhagen, Fac Hlth Sci, Biotech Res & Innovat Ctr BRIC, Copenhagen, Denmark.;Tech Univ Denmark, Natl Food Inst, Lyngby, Denmark.
Ask, Katrine (author)
Univ Copenhagen, Fac Hlth Sci, Biotech Res & Innovat Ctr BRIC, Copenhagen, Denmark.;Eli Lilly Danmark, Herlev, Denmark.
Roberts, Nigel (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.
Downes, Damien J. (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.
Brolih, Sanja (author)
Univ Oxford, MRC Weatherall Inst Mol Med, Dept Oncol, Oxford, England.
Johnson, Errin (author)
Univ Oxford, Sir William Dunn Sch Pathol, Oxford, England.
Xella, Barbara (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.
Proven, Melanie (author)
Oxford Univ Hosp NHS Fdn Trust, Mol Haematol Lab, Oxford, England.
Hipkiss, Ria (author)
Oxford Univ Hosp NHS Fdn Trust, Mol Haematol Lab, Oxford, England.
Ryan, Kate (author)
Manchester Univ NHS Fdn Trust, Haematol Dept, Manchester, Lancs, England.
Frisk, Per, 1966- (author)
Uppsala universitet,Barnneurologi/Barnonkologi,Uppsala Univ, Dept Womens & Childrens Hlth, Uppsala, Sweden.;Uppsala Univ, Childrens Hosp, Uppsala, Sweden.
Mäkk, Johan (author)
Uppsala universitet,Centrum för klinisk forskning, Västerås
Stattin, Evalena (author)
Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
Sadasivam, Nandini (author)
Manchester Univ NHS Fdn Trust, Haematol Dept, Manchester, Lancs, England.
McIlwaine, Louisa (author)
NHS Trust Greater Glasgow & Clyde, Dept Haematol, Glasgow, Lanark, Scotland.
Hill, Quentin A. (author)
St James Univ Hosp, Dept Haematol, Leeds, W Yorkshire, England.
Renella, Raffaele (author)
Lausanne Univ Hosp, Pediat Hematol Oncol Lab, Lausanne, VD, Switzerland.;Univ Lausanne, Lausanne, VD, Switzerland.
Hughes, Jim R. (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.
Gibbons, Richard J. (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.
Groth, Anja (author)
Univ Copenhagen, Fac Hlth Sci, Biotech Res & Innovat Ctr BRIC, Copenhagen, Denmark.;Univ Copenhagen, Fac Hlth Sci, Novo Nordisk Ctr Prot Res CPR, Copenhagen, Denmark.
McHugh, Peter J. (author)
Univ Oxford, MRC Weatherall Inst Mol Med, Dept Oncol, Oxford, England.
Higgs, Douglas R. (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.
Buckle, Veronica J. (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.
Babbs, Christian (author)
Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.
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Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England.;Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, England.;John Radcliffe Hosp, NIHR Oxford Biomed Res Ctr, Oxford, England.;John Radcliffe Hosp, BRC NHS Translat Mol Diagnost Ctr, Oxford, England. (creator_code:org_t)
2020-06-09
2021
English.
In: Journal of Medical Genetics. - : BMJ Publishing Group Ltd. - 0022-2593 .- 1468-6244. ; 58:3, s. 185-195
Related links:
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Background Congenital dyserythropoietic anaemia type I (CDA-I) is a hereditary anaemia caused by biallelic mutations in the widely expressed genes CDAN1 and C15orf41. Little is understood about either protein and it is unclear in which cellular pathways they participate. Methods Genetic analysis of a cohort of patients with CDA-I identifies novel pathogenic variants in both known causative genes. We analyse the mutation distribution and the predicted structural positioning of amino acids affected in Codanin-1, the protein encoded by CDAN1. Using western blotting, immunoprecipitation and immunofluorescence, we determine the effect of particular mutations on both proteins and interrogate protein interaction, stability and subcellular localisation. Results We identify six novel CDAN1 mutations and one novel mutation in C15orf41 and uncover evidence of further genetic heterogeneity in CDA-I. Additionally, population genetics suggests that CDA-I is more common than currently predicted. Mutations are enriched in six clusters in Codanin-1 and tend to affect buried residues. Many missense and in-frame mutations do not destabilise the entire protein. Rather C15orf41 relies on Codanin-1 for stability and both proteins, which are enriched in the nucleolus, interact to form an obligate complex in cells. Conclusion Stability and interaction data suggest that C15orf41 may be the key determinant of CDA-I and offer insight into the mechanism underlying this disease. Both proteins share a common pathway likely to be present in a wide variety of cell types; however, nucleolar enrichment may provide a clue as to the erythroid specific nature of CDA-I. The surprisingly high predicted incidence of CDA-I suggests that better ascertainment would lead to improved patient care.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Hematologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Hematology (hsv//eng)

Keyword

molecular genetics
cell biology
clinical genetics
haematology (incl Blood transfusion)

Publication and Content Type

ref (subject category)
art (subject category)

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