Neuronal apoptosis inhibitor protein, gene sequence and mutations causative of spinal muscular atrophy

US6020127A · kind A · utility

Assignees

• THE UNIVERSITY OF OTTAWA · CA
• Research Development Corporation of Japan · JP

Inventors

• Alex E. MacKenzie · Ottawa, CA
• Robert G. Korneluk · Schreiber, CA
• Natalie Roy · Village of La Jolla, US
• Mani S. Mahadevan · Madison, US
• Michael D. McLean · Guelph, CA
• Joh-E Ikeda · Tokyo, JP

Key dates

• Filing date: Jun 20, 1997
• Grant date: Feb 1, 2000
• Expiry date: Jun 20, 2017

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q1/6883
• WIPO field: Measurement
• WIPO sector: Instruments

Abstract

The gene for the autosomal recessive neurodegenerative disorder Spinal Muscular Atrophy has been mapped to a region of chromosome 5. The gene encodes a protein having homology with apoptosis inhibitor proteins of viruses so that the encoded protein has been labelled as a neuronal apoptosis inhibitor protein (NAIP). A deletion in the (NAIP) domain was identified in persons with Type I, II and III Spinal Muscular Atrophy (SMA) and not in the normal non-SMA population.