A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

2006 ◽  
Vol 140A (4) ◽  
pp. 392-397 ◽  
Author(s):  
Luis A. Aguirre ◽  
Ignacio del Castillo ◽  
Alfons Macaya ◽  
Carme Medá ◽  
Manuela Villamar ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Mitochondrial Protein ◽  
Familial Case ◽  
Gene Encoding

A Spanish sporadic case of deafness–dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes

2008 ◽  
Vol 18 (12) ◽  
pp. 979-981 ◽  
Author(s):  
Luis A. Aguirre ◽  
Manuel Pérez-Bas ◽  
Manuela Villamar ◽  
M. Asunción López-Ariztegui ◽  
Miguel A. Moreno-Pelayo ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Mitochondrial Protein ◽  
Sporadic Case ◽  
Gene Encoding

scholarly journals A BAFF-R mutation associated with non-Hodgkin lymphoma alters TRAF recruitment and reveals new insights into BAFF-R signaling

2010 ◽  
Vol 207 (12) ◽  
pp. 2569-2579 ◽  
Author(s):  
Joanne M. Hildebrand ◽  
Zhenghua Luo ◽  
Michelle K. Manske ◽  
Tammy Price-Troska ◽  
Steven C. Ziesmer ◽  
...  
Keyword(s):  
B Cell ◽  
Hodgkin Lymphoma ◽  
Novel Mutation ◽  
B Cell Development ◽  
Signaling Cascades ◽  
Binding Motif ◽  
Wild Type ◽  
Immunoglobulin Production ◽  
Gene Encoding ◽  
Non Hodgkin Lymphoma

The cytokine B cell activating factor (BAFF) and its receptor, BAFF receptor (BAFF-R), modulate signaling cascades critical for B cell development and survival. We identified a novel mutation in TNFRSF13C, the gene encoding human BAFF-R, that is present in both tumor and germline tissue from a subset of patients with non-Hodgkin lymphoma. This mutation encodes a His159Tyr substitution in the cytoplasmic tail of BAFF-R adjacent to the TRAF3 binding motif. Signaling through this mutant BAFF-R results in increased NF-κB1 and NF-κB2 activity and increased immunoglobulin production compared with the wild-type (WT) BAFF-R. This correlates with increased TRAF2, TRAF3, and TRAF6 recruitment to His159Tyr BAFF-R. In addition, we document a requirement for TRAF6 in WT BAFF-R signaling. Together, these data identify a novel lymphoma-associated mutation in human BAFF-R that results in NF-κB activation and reveals TRAF6 as a necessary component of normal BAFF-R signaling.

scholarly journals Inactivation of the Neurospora crassa gene encoding the mitochondrial protein import receptor MOM19 by the technique of "sheltered RIP".

Genetics ◽  
1994 ◽  
Vol 136 (1) ◽  
pp. 107-118 ◽  
Author(s):  
T A Harkness ◽  
R L Metzenberg ◽  
H Schneider ◽  
R Lill ◽  
W Neupert ◽  
...  
Keyword(s):  
Neurospora Crassa ◽  
Target Gene ◽  
Protein Import ◽  
Selectable Marker ◽  
Mitochondrial Protein ◽  
Mutant Gene ◽  
Mitochondrial Protein Import ◽  
Gene Encoding ◽  
Precursor Proteins ◽  
Import Receptor

Abstract We have used a technique referred to as "sheltered RIP" (repeat induced point mutation) to create mutants of the mom-19 gene of Neurospora crassa, which encodes an import receptor for nuclear encoded mitochondrial precursor proteins. Sheltered RIP permits the isolation of a mutant gene in one nucleus, even if that gene is essential for the survival of the organism, by sheltering the nucleus carrying the mutant gene in a heterokaryon with an unaffected nucleus. Furthermore, the nucleus harboring the RIPed gene contains a selectable marker so that it is possible to shift nuclear ratios in the heterokaryons to a state in which the nucleus containing the RIPed gene predominates in cultures grown under selective conditions. This results in a condition where the target gene product should be present at very suboptimal levels and allows the study of the mutant phenotype. One allele of mom-19 generated by this method contains 44 transitions resulting in 18 amino acid substitutions. When the heterokaryon containing this allele was grown under conditions favoring the RIPed nucleus, no MOM19 protein was detectable in the mitochondria of the strain. Homokaryotic strains containing the RIPed allele exhibit a complex and extremely slow growth phenotype suggesting that the product of the mom-19 gene is important in N. crassa.

scholarly journals Dysfunction of Prohibitin 2 Results in Reduced Susceptibility to Multiple Antifungal Drugs via Activation of the Oxidative Stress-Responsive Transcription Factor Pap1 in Fission Yeast

2018 ◽  
Vol 62 (11) ◽  
Author(s):  
Qiannan Liu ◽  
Fan Yao ◽  
Guanglie Jiang ◽  
Min Xu ◽  
Si Chen ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Drug Resistance ◽  
Transcription Factor ◽  
Fission Yeast ◽  
Mitochondrial Protein ◽  
Antifungal Drugs ◽  
Antifungal Drug ◽  
Gene Encoding ◽  
Content Type ◽  
Antifungal Drug Resistance

ABSTRACT The fight against resistance to antifungal drugs requires a better understanding of the underlying cellular mechanisms. In order to gain insight into the mechanisms leading to antifungal drug resistance, we performed a genetic screen on a model organism, Schizosaccharomyces pombe, to identify genes whose overexpression caused resistance to antifungal drugs, including clotrimazole and terbinafine. We identified the phb2+ gene, encoding a highly conserved mitochondrial protein, prohibitin (Phb2), as a novel determinant of reduced susceptibility to multiple antifungal drugs. Unexpectedly, deletion of the phb2+ gene also exhibited antifungal drug resistance. Overexpression of the phb2+ gene failed to cause drug resistance when the pap1+ gene, encoding an oxidative stress-responsive transcription factor, was deleted. Furthermore, pap1+ mRNA expression was significantly increased when the phb2+ gene was overexpressed or deleted. Importantly, either overexpression or deletion of the phb2+ gene stimulated the synthesis of NO and reactive oxygen species (ROS), as measured by the cell-permeant fluorescent NO probe DAF-FM DA (4-amino-5-methylamino-2′,7′-difluorofluorescein diacetate) and the ROS probe DCFH-DA (2′,7′-dichlorodihydrofluorescein diacetate), respectively. Taken together, these results suggest that Phb2 dysfunction results in reduced susceptibility to multiple antifungal drugs by increasing NO and ROS synthesis due to dysfunctional mitochondria, thereby activating the transcription factor Pap1 in fission yeast.

scholarly journals A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

2016 ◽  
Vol 25 (3) ◽  
pp. 107-110 ◽  
Author(s):  
Shinji Higuchi ◽  
Masaki Takagi ◽  
Satoshi Shimomura ◽  
Gen Nishimura ◽  
Yukihiro Hasegawa
Keyword(s):  
Novel Mutation ◽  
Familial Case ◽  
Metaphyseal Chondrodysplasia
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