✦ LIBER ✦

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

✍ Scribed by Nobuyuki Shimozawa; Toshiro Tsukamoto; Tomoko Nagase; Yasuhiko Takemoto; Naoki Koyama; Yasuyuki Suzuki; Masayuki Komori; Takashi Osumi; Gootjes Jeannette; Ronald J.A. Wanders; Naomi Kondo

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 292 KB
Volume: 23
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.20032

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Jean-Louis Mandel

Peroxisome biogenesis disorders (PBD) are lethal hereditary diseases caused by abnormalities in the biogenesis of peroxisomes. At present, 12 different complementation groups have been identified and to date, all genes responsible for each of these complementation groups have been identified. The peroxisomal membrane protein PEX14 is a key component of the peroxisomal import machinery and may be the initial docking site for the two import receptors PEX5 and PEX7. Although PEX14 mutants have been identified in yeasts and CHO-cells, human PEX14 deficiency has apparently not been documented. We now report the identification of a new complementation group of the peroxisome biogenesis disorders with PEX14 as the defective gene. Indeed, human PEX14 rescues the import of a PTS1-dependent as well as a PTS2-dependent protein into the peroxisomes in fibroblasts from a patient with Zellweger syndrome belonging to the new complementation group. This patient was homozygous for a nonsense mutation in a putative coiled-coil region of PEX14, c.553C4T (p.Q185X). Furthermore, we showed that the patient's fibroblasts lacked PEX14 as determined by immunocytochemical analysis. These findings indicate that there are 13 genotypes in PBD and that the role of PEX14 is also essential in humans. Hum Mutat 23:552-558, 2004 r 2004 Wiley-Liss, Inc.

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