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Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

Dhanraj, Santhosh (author)
Hosp Sick Children, Res Inst, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada.;Univ Toronto, Inst Med Sci, Toronto, ON, Canada.
Gunja, Sethu Madhava Rao (author)
Uppsala universitet,Kemisk biologi
Deveau, Adam P. (author)
Dalhousie Univ, Dept Microbiol & Immunol, Halifax, NS, Canada.
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Nissbeck, Mikael (author)
Uppsala universitet,Kemisk biologi
Boonyawat, Boonchai (author)
Hosp Sick Children, Res Inst, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada.;Hosp Sick Children, Dept Paediat, Toronto, ON M5G 1X8, Canada.
Coombs, Andrew J. (author)
IWK Hlth Ctr, Dept Pediat, Halifax, NS, Canada.;Dalhousie Univ, Halifax, NS, Canada.
Renieri, Alessandra (author)
Univ Siena, Dept Med Genet, I-53100 Siena, Italy.
Mucciolo, Mafalda (author)
Azienda Osped Univ Senese, Genet Med, Siena, Italy.
Marozza, Annabella (author)
Azienda Osped Univ Senese, Genet Med, Siena, Italy.
Buoni, Sabrina (author)
Univ Senese, Azienda Osped, Neuropsichiat Infantile, Siena, Italy.
Turner, Lesley (author)
Mem Univ Newfoundland, Dept Discipline Genet, St John, NF, Canada.
Li, Hongbing (author)
Hosp Sick Children, Res Inst, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada.
Jarrar, Ameer (author)
IWK Hlth Ctr, Dept Pediat, Halifax, NS, Canada.;Dalhousie Univ, Halifax, NS, Canada.
Sabanayagam, Mathura (author)
Hosp Sick Children, Res Inst, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada.
Kirby, Melanie (author)
Shago, Mary (author)
Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON M5G 1X8, Canada.
Pinto, Dalila (author)
Hosp Sick Children, Res Inst, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada.;Mt Sinai Sch Med, Mindich Child Hlth & Dev Inst, Seaver Autism Ctr, Dept Psychiat & Genet, New York, NY USA.;Mt Sinai Sch Med, Mindich Child Hlth & Dev Inst, Seaver Autism Ctr, Dept Genom Sci, New York, NY USA.
Berman, Jason N. (author)
IWK Hlth Ctr, Dept Pediat, Halifax, NS, Canada.;Dalhousie Univ, Halifax, NS, Canada.
Scherer, Stephen W. (author)
Hosp Sick Children, Res Inst, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
Virtanen, Anders (author)
Uppsala universitet,Kemisk biologi
Dror, Yigal (author)
Hosp Sick Children, Res Inst, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada.;Univ Toronto, Inst Med Sci, Toronto, ON, Canada.;Hosp Sick Children, Dept Paediat, Toronto, ON M5G 1X8, Canada.
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Hosp Sick Children, Res Inst, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada;Univ Toronto, Inst Med Sci, Toronto, ON, Canada. Kemisk biologi (creator_code:org_t)
2015-09-04
2015
English.
In: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 52:11, s. 738-748
Related links:
https://urn.kb.se/re...
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https://doi.org/10.1...
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Background Deadenylation regulates RNA function and fate. Poly(A)-specific ribonuclease (PARN) is a deadenylase that processes mRNAs and non-coding RNA. Little is known about the biological significance of germline mutations in PARN. Methods We identified mutations in PARN in patients with haematological and neurological manifestations. Genomic, biochemical and knockdown experiments in human marrow cells and in zebrafish have been performed to clarify the role of PARN in the human disease. Results We identified large monoallelic deletions in PARN in four patients with developmental delay or mental illness. One patient in particular had a severe neurological phenotype, central hypomyelination and bone marrow failure. This patient had an additional missense mutation on the non-deleted allele and severely reduced PARN protein and deadenylation activity. Cells from this patient had impaired oligoadenylation of specific H/ACA box small nucleolar RNAs. Importantly, PARN-deficient patient cells manifested short telomeres and an aberrant ribosome profile similar to those described in some variants of dyskeratosis congenita. Knocking down PARN in human marrow cells and zebrafish impaired haematopoiesis, providing further evidence for a causal link with the human disease. Conclusions Large monoallelic mutations of PARN can cause developmental/mental illness. Biallelic PARN mutations cause severe bone marrow failure and central hypomyelination.

Subject headings

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

Keyword

Genetics
Haematology (incl Blood transfusion)
Copy-number
Molecular genetics
Neurology

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