US 6,646,113 B1 · Nucleic acid molecule encoding human survival of motor neuron-interacting protein 1 (SIP1) deletion mutants

Abstract

The invention relates to an isolated nucleic acid encoding a eukaryotic Survival of Motor Neuron-Interacting Protein 1 (SIP1), compositions comprising SIP1 and SIP1 and the spinal muscular atrophy (SMA) disease gene product Survival of Motor Neuron protein (SMN), and diagnostic and therapeutic assays directed to SMA. The invention also relates to another protein that specifically interacts with SMN and is a component of gems, designated Gemin3, and the nucleic acid encoding the protein. Additionally, the invention relates to a novel cell line wherein the endogenous SMN genes have been deleted and where an exogenous nucleic acid encoding SMN has been inserted into the cell such that expression of SMN in the cell is under the control of an inducible promoter. This novel cell line provides a stable genetic system for the study of SMA and for the development of SMA therapeutics.

Claims8

Dependent claims

An isolated nucleic acid encoding a human Survival of Motor Neuron-Interacting Protein 1, wherein said nucleic acid encodes a protein that differs from the amino acid sequence of SEQ ID NO:

2 by a mutation that inhibits binding of Survival of Motor Neuron-Interacting Protein 1 with Survival of Motor Neuron protein, and further wherein said mutation is selected from the group consisting of a deletion of the carboxyl terminal 89 amino acids relative to the amino acid sequence of SEQ ID NO:
2 and a deletion of the carboxyl terminal 162 amino acids relative to the amino acid sequence of SEQ ID NO:
2.

Dependencies are inferred from the claim text.

Facts

Application

09/399,081Filed 17 Sep 1999 · us provisional application

Priority

17 Sep 1998

Granted

11 Nov 2003

Term ends

Not estimatedThe source records don’t support an estimate.

Classification8 codes

C07K 14/475
From animals; from humans: growth factors; Growth regulators
Y10S 977/775
Nanoparticle, i.e. structure having three dimensions of 100 nm or less: nanosized powder or flake, e.g. nanosized catalyst
Y10S 977/881
With arrangement, process, or apparatus for testing: microscopy or spectroscopy, e.g. sem, tem
Y10S 977/916
Therapeutic or pharmaceutical composition: gene therapy

Nucleic acid molecule encoding human survival of motor neuron-interacting protein 1 (SIP1) deletion mutants

Life of this patent

Nucleic acid molecule encoding human survival of motor neuron-interacting protein 1 (SIP1) deletion mutants

Life of this patent

Abstract

Claims8