NPHS2 gene involved in the steroid-resistant nephrotic syndrome, protein encoded by said gene and diagnostic and therapeutic uses
AssigneeInstitut National De La Sante Et De La Recherche Medicale (Inserm)
InventorsCorinne Antignac, Nicolas Boute
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Abstract
The invention concerns a novel gene, called NPHS2 gene coding for a protein involved in the cortico-resistant nephrotic syndrome, and diagnostic and therapeutic uses of the novel identified nucleotide sequences and amino acids.
Claims14
An isolated nucleic acid, the sequence of which is chosen from SEQ ID no 3 to SEQ ID no 10, or a homologous sequence defined as
- i) a sequence which is identical to at least 70% of the sequence SEQ ID no 3 to SEQ ID no 10;
- or
- ii) a sequence which hybridizes with the sequence SEQ ID no 3 to SEQ ID no 10, or the sequences complementary thereto, under stringent hybridization conditions.
An isolated polypeptide, named podocin, comprising the amino acid sequence SEQ ID no 2 or no 29, or a homologous sequence defined as
- i) a sequence which is identical to at least 70% of the sequence SEQ ID no 2 or no 29;
- or
- ii) a sequence which is encoded by a nucleic acid sequence which hybridizes with the sequence SEQ ID no 1 or no 28, or the sequences complementary thereto, under stringent hybridization conditions.
An isolated nucleic acid comprising a sequence which differs from the sequence SEQ ID no 1 by mutation, insertion or deletion, in particular in at least one of the positions of nucleotides 481, 173/174, 488, 924/925, 128, 343, 482, 548, 607 and 940, or else 1033, 529, 622, 774-782, 154, 422, 442, 571, 572, 583, 783, 794 and 848.
A nucleic acid consisting of a sequence chosen from the sequences SEQ ID no 11 to SEQ ID no 27.
Dependencies are inferred from the claim text.