scholarly journals Mutation in PEX16 Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D

1998 ◽  
Vol 63 (6) ◽  
pp. 1622-1630 ◽  
Author(s):  
Masanori Honsho ◽  
Shigehiko Tamura ◽  
Nobuyuki Shimozawa ◽  
Yasuyuki Suzuki ◽  
Naomi Kondo ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
Complementation Group ◽  
Group D

Phenotype–genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p–Pex6p interaction

2001 ◽  
Vol 357 (2) ◽  
pp. 417-426 ◽  
Author(s):  
Shigehiko TAMURA ◽  
Naomi MATSUMOTO ◽  
Atsushi IMAMURA ◽  
Nobuyuki SHIMOZAWA ◽  
Yasuyuki SUZUKI ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
Complementation Group ◽  
Temperature Sensitive ◽  
Permissive Temperature ◽  
Peroxisome Biogenesis ◽  
Causative Gene ◽  
Aaa Atpase ◽  
Peroxisome Biogenesis Disorders ◽  
The Stability

The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS), neonatal adrenoleucodystrophy (NALD) and infantile Refsum disease (IRD), are fatal autosomal recessive diseases caused by impaired peroxisome biogenesis, of which 12 genotypes have been reported. ZS patients manifest the severest clinical and biochemical abnormalities, whereas those with NALD and IRD show less severity and the mildest features respectively. We have reported previously that temperature-sensitive peroxisome assembly is responsible for the mildness of the clinical features of IRD. PEX1 is the causative gene for PBDs of complementation group E (CG-E, CG1 in the U.S.A. and Europe), the PBDs of highest incidence, encoding the peroxin Pex1p of the AAA ATPase family. It has been also reported that Pex1p and Pex6p interact with each other. In the present study we investigated phenotype–genotype relationships of CG1 PBDs. Pex1p from IRD such as Pex1p with the most frequently identified mutation at G843D was largely degraded in vivo at 37°C, whereas a normal level of Pex1p was detectable at the permissive temperature. In contrast, PEX1 proteins derived from ZS patients, including proteins with a mutation at L664P or the deletion of residues 634–690, were stably present at both temperatures. Pex1p-G843D interacted with Pex6p at approx. 50% of the level of normal Pex1p, whereas Pex1p from ZS patients mostly showing non-temperature-sensitive peroxisome biogenesis hardly bound to Pex6p. Taking these results together, we consider it most likely that the stability of Pex1p reflects temperature-sensitive peroxisome assembly in IRD fibroblasts. Failure in Pex1p–Pex6p interaction gives rise to more severe abnormalities, such as those manifested by patients with ZS.

scholarly journals Polymorphism ofXRCC1,XRCC3, andXPDGenes and Risk of Chronic Myeloid Leukemia

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Claudia Bănescu ◽  
Adrian P. Trifa ◽  
Smaranda Demian ◽  
Erzsebeth Benedek Lazar ◽  
Delia Dima ◽  
...  
Keyword(s):  
Complementation Group ◽  
Control Group ◽  
X Ray ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Variant Genotype ◽  
Group 3 ◽  
And Control ◽  
Group D ◽  
Repair Genes

The genetic polymorphisms of X-ray repair cross complementing group 1 (XRCC1), X-ray repair cross complementing group 3 (XRCC3), and xeroderma pigmentosum complementation group D (XPD) repair genes may lead to genetic instability and leukemogenesis. The purpose of the study was to evaluate the association betweenXRCC1Arg399Gln, Arg280His and Arg194Trp,XRCC3Thr241Met, andXPDLys751Gln polymorphisms and the risk of developing CML in Romanian patients. A total of 156 patients diagnosed with CML and 180 healthy controls were included in this study. We found no association between CML andXRCC1orXRCC3variant genotypes in any of the investigated cases. A significant difference was observed in the variant genotype frequencies of theXPDLys751Gln polymorphism between the patients with CML and control group (for variant homozygous genotypes,OR=2.37; 95%CI=1.20–4.67;Pvalue = 0.016 and for combined heterozygous and variant homozygous genotypes,OR=1.72; 95%CI=1.10–2.69;Pvalue = 0.019). This was also observed when analyzing the variant 751Gln allele (OR=1.54; 95%CI=1.13–2.11;Pvalue = 0.008). Our results suggest that theXPDLys751Gln variant genotype increases the risk of CML.

scholarly journals Localization of the Fanconi Anemia Complementation Group D Gene to a 200-kb Region on Chromosome 3p25.3

2000 ◽  
Vol 66 (5) ◽  
pp. 1540-1551 ◽  
Author(s):  
James A. Hejna ◽  
Cynthia D. Timmers ◽  
Carol Reifsteck ◽  
Donald A. Bruun ◽  
Lora W. Lucas ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Complementation Group ◽  
Group D

A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing

2016 ◽  
Vol 32 (4) ◽  
pp. 174-180 ◽  
Author(s):  
Ryusuke Ono ◽  
Taro Masaki ◽  
Franklin Mayca Pozo ◽  
Yuka Nakazawa ◽  
Sigrid M. A. Swagemakers ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Xeroderma Pigmentosum ◽  
Complementation Group ◽  
Whole Genome ◽  
Mild Case ◽  
Group D
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