Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
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Tartalom: http://real.mtak.hu/21788/
Archívum: MTA Könyvtár
Gyűjtemény: Status = Published


Type = Article
Cím:
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
Létrehozó:
Tory, Kálmán
Menyhárd, K. Dóra
Woerner, Stephanie
Nevo, Fabien
Gribouval, Olivier
Kerti, Andrea
Stráner, Pál
Arrondel, Christelle
Huynh Cong, Evelyne
Tulassay, Tivadar
Mollet, GĂ©raldine
Perczel, András
Antignac, Corinne
Kiadó:
Nature Publishing Group
Dátum:
2014-02
Téma:
QD Chemistry / kémia
QP Physiology / Ă©lettan
Tartalmi leírás:
Monogenic disorders result from defects in a single gene. According to Mendel’s laws, these disorders are inherited in either a recessive or dominant fashion. Autosomal-recessive disorders require a disease-causing variant on both alleles, and according to our current understanding, their pathogenicities are not influenced by each other. Here we present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated mutation. We show that, contrary to expectations, this allele leads to a disease phenotype only when it is associated specifically with certain 3′ NPHS2 mutations because of an altered heterodimerization and mislocalization of the encoded p.Arg229Gln podocin. The disease-associated 3′ mutations exert a dominant-negative effect on p.Arg229Gln podocin but behave as recessive alleles when associated with wild-type podocin. Therefore, the transmission rates for couples carrying the disease-associated mutations and p.Arg229Gln may be substantially different from those expected in autosomal-recessive disorders.
Nyelv:
magyar
Típus:
Article
PeerReviewed
info:eu-repo/semantics/article
Formátum:
text
Azonosító:
Tory, Kálmán and Menyhárd, K. Dóra and Woerner, Stephanie and Nevo, Fabien and Gribouval, Olivier and Kerti, Andrea and Stráner, Pál and Arrondel, Christelle and Huynh Cong, Evelyne and Tulassay, Tivadar and Mollet, Géraldine and Perczel, András and Antignac, Corinne (2014) Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. Nature Genetics, 46. pp. 299-304. ISSN 1061-4036
Kapcsolat:
10.1038/ng.2898