A Human Gene Responsible for Zellweger Syndrome That Affects Peroxisome Assembly
Abstract
The primary defect arising from Zellweger syndrome appears to be linked to impaired assembly of peroxisomes. A human complementary DNA has been cloned that complements the disease's symptoms (including defective peroxisome assembly) in fibroblasts from a patient with Zellweger syndrome. The cause of the syndrome in this patient was a point mutation that resulted in the premature termination of peroxisome assembly factor-1. The homozygous patient apparently inherited the mutation from her parents, each of whom was heterozygous for that mutation.
- Publication:
-
Science
- Pub Date:
- February 1992
- DOI:
- 10.1126/science.1546315
- Bibcode:
- 1992Sci...255.1132S