PMID- 10408779
OWN - NLM
STAT- MEDLINE
DCOM- 19991103
LR  - 20220410
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 6
DP  - 1999
TI  - Genomic structure and identification of 11 novel mutations of the PEX6
      (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis
      disorders.
PG  - 487-96
AB  - The PEX6 (peroxisome assembly factor-2, PAF-2) gene encodes a member of the AAA
      protein (ATPases associated with diverse cellular activities) family and restores
      peroxisome assembly in fibroblasts from peroxisome biogenesis disorder patients
      belonging to complementation group C (group 4 in the United States). We have now 
      clarified the genomic DNA structure of human PEX6 and identified mutations in
      patients from various ethnic groups. The human PEX6 gene consists of 17 exons and
      16 introns, spanning about 14kb. The largest exon, exon 1, has at least 952 bp
      nucleotides. Eleven novel mutations (18 alleles) were identified by direct
      sequencing of the PEX6 cDNA from 10 patients. All these mutations have been
      confirmed in the corresponding genomic DNA. There was no common mutation, but an 
      exon skip was identified in two unrelated Japanese patients. Most of the
      mutations led to premature termination or large deletions of the PEX6 protein and
      resulted in the most severe peroxisome biogenesis disorder phenotype of Zellweger
      syndrome. A patient with an atypical Zellweger syndrome had a missense mutation
      that was shown to disrupt the cell's ability to form peroxisomes. This mutation
      analysis will aid in understanding the functions of the PEX6 protein in
      peroxisomal biogenesis. Hum Mutat 13:487-496, 1999.
FAU - Zhang, Z
AU  - Zhang Z
AD  - Department of Pediatrics, Gifu University School of Medicine, Japan.
FAU - Suzuki, Y
AU  - Suzuki Y
FAU - Shimozawa, N
AU  - Shimozawa N
FAU - Fukuda, S
AU  - Fukuda S
FAU - Imamura, A
AU  - Imamura A
FAU - Tsukamoto, T
AU  - Tsukamoto T
FAU - Osumi, T
AU  - Osumi T
FAU - Fujiki, Y
AU  - Fujiki Y
FAU - Orii, T
AU  - Orii T
FAU - Wanders, R J
AU  - Wanders RJ
FAU - Barth, P G
AU  - Barth PG
FAU - Moser, H W
AU  - Moser HW
FAU - Paton, B C
AU  - Paton BC
FAU - Besley, G T
AU  - Besley GT
FAU - Kondo, N
AU  - Kondo N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 3.6.1.- (Adenosine Triphosphatases)
RN  - EC 3.6.4.- (ATPases Associated with Diverse Cellular Activities)
RN  - EC 3.6.4.- (PEX6 protein, human)
RN  - EC 3.6.4.- (Pex6 protein, rat)
SB  - IM
MH  - ATPases Associated with Diverse Cellular Activities
MH  - Adenosine Triphosphatases/*biosynthesis/*genetics
MH  - Base Sequence
MH  - Exons
MH  - Fibroblasts
MH  - Fluorescent Antibody Technique
MH  - Gene Expression Regulation
MH  - Gene Library
MH  - Humans
MH  - Introns
MH  - Models, Genetic
MH  - Molecular Sequence Data
MH  - Mutagenesis, Site-Directed
MH  - *Mutation
MH  - Mutation, Missense
MH  - Peroxisomal Disorders/*genetics
MH  - Transfection
EDAT- 1999/07/17 10:00
MHDA- 2000/06/22 10:00
CRDT- 1999/07/17 10:00
PHST- 1999/07/17 10:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/07/17 10:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(6):487-96. doi:
      10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T.