Description:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A
PEROXISOME BIOGENESIS FACTOR 6; PEX6
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17092 [PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A] |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
SPANISH
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| PEROXISOMAL ENZYMES |
Zoeller et al (J Biol Chem 264:21872-21878,1989) reported that this Zellweger cell line showed deficient peroxisomal dihydroxyacetonephosphate acyltransferase (DHAP-AT) and peroxisomal acyl-coenzyme A oxidation activities in whole cell homogenates. |
| |
| Gene |
PEX6 |
| Chromosomal Location |
6p21.1 |
| Allelic Variant 1 |
601498.0003; PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A |
| Identified Mutation |
1-BP INS, NT511 (p.Gly171fs) |
| |
| Gene |
PEX6 |
| Chromosomal Location |
6p21.1 |
| Allelic Variant 2 |
601498.0003; PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A |
| Identified Mutation |
1-BP INS, NT511 (p.Gly171fs) |
| Remarks |
Spanish; severe failure to thrive; typical facies; generalized amino-aciduria; epiphyseal stippling in the knees; eye findings include zonular cataracts, absent ERG and abnormal VER; elevated C26: C22; 46,XX |
| Bartz R, Li WH, Venables B, Zehmer JK, Roth MR, Welti R, Anderson RG, Liu P, Chapman KD, Lipidomics reveals that adiposomes store ether lipids and mediate phospholipid traffic Journal of lipid research48:837-47 2007 |
| PubMed ID: 17210984 |
| |
| Fukuda S, Shimozawa N, Suzuki Y, Zhang Z, Tomatsu S, Tsukamoto T, Hashiguchi N, Osumi T, Masuno M, Imaizumi K, Kuroki Y, Fujiki Y, Orii T, Kondo N, Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans American journal of human genetics59:1210-20 1996 |
| PubMed ID: 8940266 |
| |
| Paton BC, Sharp PC, Crane DI, Poulos A, Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects. J Clin Invest97:681-8 1996 |
| PubMed ID: 8609223 |
| |
| Puglielli L, Rigotti A, Greco AV, Santos MJ, Nervi F, Sterol carrier protein-2 is involved in cholesterol transfer from the endoplasmic reticulum to the plasma membrane in human fibroblasts. J Biol Chem270:18723-6 1995 |
| PubMed ID: 7642518 |
| |
| Yajima S, Suzuki Y, Shimozawa N, Yamaguchi S, Orii T, Fujiki Y, Osumi T, Hashimoto T, Moser HW, Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells. Hum Genet88:491-9 1992 |
| PubMed ID: 1372585 |
| |
| Zoeller RA, Allen LA, Santos MJ, Lazarow PB, Hashimoto T, Tartakoff AM, Raetz CR, Chinese hamster ovary cell mutants defective in peroxisome biogenesis. Comparison to Zellweger syndrome. J Biol Chem264:21872-8 1989 |
| PubMed ID: 2689450 |
| |
| Rizzo WB, Dammann AL, Craft DA, Sjogren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest81:738-44 1988 |
| PubMed ID: 3343337 |
| |
| Santos MJ, Imanaka T, Shio H, Lazarow PB, Peroxisomal integral membrane proteins in control and Zellweger fibroblasts. J Biol Chem263:10502-9 1988 |
| PubMed ID: 3292528 |
| |
| Singh H, Derwas N, Poulos A, Beta-oxidation of very-long-chain fatty acids and their coenzyme A derivatives by human skin fibroblasts. Arch Biochem Biophys254:526-33 1987 |
| PubMed ID: 2437859 |
| |
| Singh H, Derwas N, Poulos A, Very long chain fatty acid beta-oxidation by subcellular fractions of normal and Zellweger syndrome skin fibroblasts. Arch Biochem Biophys257:302-14 1987 |
| PubMed ID: 3662528 |
| |
| Webber KO, Datta NS, Hajra AK, Properties of the enzymes catalyzing the biosynthesis of lysophosphatidate and its ether analog in cultured fibroblasts from Zellweger syndrome patients and normal controls. Arch Biochem Biophys254:611-20 1987 |
| PubMed ID: 3646870 |
| |
| Sakai T, Antoku Y, Goto I, Plasmalogen deficiency in cultured skin fibroblasts from neonatal adrenoleukodystrophy. Exp Neurol94:149-54 1986 |
| PubMed ID: 3758277 |
| |
| Singh H, Poulos A, A comparative study of stearic and lignoceric acid oxidation by human skin fibroblasts. Arch Biochem Biophys250:171-9 1986 |
| PubMed ID: 3767370 |
| |
| Arias JA, Moser AB, Goldfischer SL, Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders. J Cell Biol100:1789-92 1985 |
| PubMed ID: 3988808 |
| |
| Roscher A, Molzer B, Bernheimer H, Stockler S, Mutz I, Paltauf F, The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection. Pediatr Res19:930-3 1985 |
| PubMed ID: 4047762 |
| |
| Santos MJ, Ojeda JM, Garrido J, Leighton F, Peroxisomal organization in normal and cerebrohepatorenal (Zellweger) syndrome fibroblasts. Proc Natl Acad Sci U S A82:6556-60 1985 |
| PubMed ID: 2995971 |
| |
| Datta NS, Wilson GN, Hajra AK, Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes. N Engl J Med311:1080-3 1984 |
| PubMed ID: 6566965 |
| |
| Moser AE, Singh I, Brown FR 3d, Solish GI, Kelley RI, Benke PJ, Moser HW, The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. N Engl J Med310:1141-6 1984 |
| PubMed ID: 6709009 |
| |
| Hittner HM, Kretzer FL, Mehta RS, Zellweger syndrome. Lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes. Arch Ophthalmol99:1977-82 1981 |
| PubMed ID: 7295145 |
| Passage Frozen |
4 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|