Mutant gene causing a defect in mitochondrial recombination and a method for its detection

US5908747A · kind A · utility

Assignee

• The Institute of Physical and Chemical Research · JP

Inventors

• Takehiko Shibata · Saitama, JP
• Feng Ling · Nanhu, CN
• Fusao Makishima · Tokyo, JP

Key dates

• Filing date: Jun 21, 1996
• Grant date: Jun 1, 1999
• Expiry date: Jun 21, 2016

Classification

• Technology area (CPC A): Human Necessities
• CPC primary: A61K38/00
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

A multi-step method of detecting a gene in a nuclear chromosome which is involved in mitochondrial recombination is disclosed. The method disclosed includes the steps: a) fusing enucleated .omega..sup.- mitochondrial donor cells expressing a first marker gene with nucleus-containing .omega..sup.+ mitochondrial recipient cells expressing a second marker gene different from the first marker gene to form fused cells wherein the fused cells have one type of mitochondria and b) selecting fused cells that are .omega..sup.+ and express the first and second marker genes to identify those enucleated .omega..sup.- mitochondrial donor cells with a reduced recombination frequency. The method includes the further steps of judging that the gene in a nuclear chromosome of the recipient cells involved in mitochondrial recombination is normal when the mitochondrial recombination frequency is high or that the gene is mutated when the recombination frequency is low. The judging steps permit the detection of a mutant gene in a nuclear chromosome of the recipient cells used for cell fusion. An isolated mhr1 and MHR1 gene coding for a polypeptide is also disclosed.