US 7,459,309 B2 · Isolated polypeptide deletion mutants of survival of motor neuron-interacting protein 1

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 polypeptide comprising SEQ ID NO:

2 that differs from the amino acid sequence of SEQ ID NO:
2 by a mutation that inhibits binding of Survival Motor Neuron-Interacting Protein 1 with Survival Motor Neuron protein, 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, and further wherein said nucleic acid comprises a nucleic acid encoding a tag polypeptide covalently linked thereto.

1 more element

Dependencies are inferred from the claim text.

Facts

Application

10/677,662Filed 2 Oct 2003 · division

Priority

17 Sep 1998

Published

US 2005/0100923 A112 May 2005

Granted

2 Dec 2008

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

Family

Application60/100,866Us provisional application · filed 17 Sep 1998

Application09/399,081Parent of this division · filed 17 Sep 1999

US 2005/0100923 A1Pre-grant publication · published 12 May 2005

US 6,646,113 B1Parent of this division

US 7,459,309 B2This patent

From the US filing history. Foreign family members aren’t listed.

Isolated polypeptide deletion mutants of survival of motor neuron-interacting protein 1

Life of this patent

Isolated polypeptide deletion mutants of survival of motor neuron-interacting protein 1

Life of this patent

Abstract

Claims8