Point Mutation

Publication Title: 
Experimental Gerontology

The absence of mtDNA in rho0 yeast cells affects both respiration and mitochondrial-nuclear communication (e.g., retrograde regulation, intergenomic signaling, or pleiotropic drug resistance). Previously, it has been reported that some rho0 strains have increased replicative lifespans, attributable to the lack of respiration and retrograde regulation.

Author(s): 
Woo, Dong Kyun
Poyton, Robert O.
Publication Title: 
Molecular and Cellular Biology

The ubiquitin ligase CHIP (carboxyl terminus of Hsp70-interacting protein) regulates protein quality control, and CHIP deletion accelerates aging and reduces the life span in mice. Here, we reveal a mechanism for CHIP's influence on longevity by demonstrating that CHIP stabilizes the sirtuin family member SirT6, a lysine deacetylase/ADP ribosylase involved in DNA repair, metabolism, and longevity.

Author(s): 
Ronnebaum, Sarah M.
Wu, Yaxu
McDonough, Holly
Patterson, Cam
Publication Title: 
Blood

Heterozygous mutations of the human telomerase RNA template gene (TERC) have been described in patients with acquired aplastic anemia and the autosomal dominant form of dyskeratosis congenita (DKC). Patients with mutations in both TERC alleles have not yet been reported. Here, we report a patient with DKC who inherited 2 distinct TERC sequence variants from her parents; a deletion (216_229del) in one and a point mutation (37A>G) in the other allele of the TERC gene. Her marrow was hypocellular and showed an abnormal clone [46, XX t(7;21)(q34;q22)].

Author(s): 
Ly, Hinh
Schertzer, Mike
Jastaniah, Wasil
Davis, Jeff
Yong, Siu Li
Ouyang, Qin
Blackburn, Elizabeth H.
Parslow, Tristram G.
Lansdorp, Peter M.
Publication Title: 
The Journal of Eukaryotic Microbiology

Site-directed mutagenesis of the telomerase RNA from Tetrahymena thermophila was used previously to demonstrate the templating function of a sequence within this RNA; this sequence specifies the sequence of telomeric DNA in vivo. The possible functional importance of a phylogenetically conserved nucleotide outside the telomerase RNA template region was investigated by a similar experimental approach.

Author(s): 
Romero, D. P.
Blackburn, E. H.
Publication Title: 
Experimental Cell Research

Expression of the catalytic subunit of human telomerase, hTERT, extends human primary fibroblast life span. Such life span extension has generally been reported to be accompanied by net telomere lengthening, which led to the hypothesis that it is the telomere lengthening that causes the life span extension. Here we show that hTERT+C and hTERT-FlagC, mutant telomerase proteins with either 10 additional residues or a FLAG epitope added to the hTERT C-terminus, confer significant but limited life span extension to IMR90 human primary lung fibroblasts.

Author(s): 
Kim, Moses
Xu, Lifeng
Blackburn, Elizabeth H.
Publication Title: 
Molecular and Cellular Biology

Telomeric DNA is maintained within a length range characteristic of an organism or cell type. Significant deviations outside this range are associated with altered telomere function. The yeast telomere-binding protein Rap1p negatively regulates telomere length. Telomere elongation is responsive to both the number of Rap1p molecules bound to a telomere and the Rap1p-centered DNA-protein complex at the extreme telomeric end.

Author(s): 
Prescott, J. C.
Blackburn, E. H.
Publication Title: 
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics

Protocadherin X and Protocadherin Y (PCDHX and PCDHY) are cell-surface adhesion molecules expressed predominantly in the brain. The PCDHX/Y gene-pair was generated by an X-Y translocation approximately 3 million years ago (MYA) that gave rise to the Homo sapiens-specific region of Xq21.3 and Yp11.2 homology. Genes within this region are expected to code for sexually dimorphic human characteristics, including, for example, cerebral asymmetry a dimension of variation that has been suggested is relevant to psychosis.

Author(s): 
Giouzeli, Maria
Williams, Nic A.
Lonie, Lorne J.
DeLisi, Lynn E.
Crow, Timothy J.
Publication Title: 
FASEB journal: official publication of the Federation of American Societies for Experimental Biology

General anesthetics are widely used in clinical practice. On the molecular level, these compounds have been shown to modulate the activity of various neuronal ion channels. However, the functional relevance of identified sites in mediating essential components of the general anesthetic state, such as immobility and hypnosis, is still unknown. Using gene-targeting technology, we generated mice harboring a subtle point mutation (N265M) in the second transmembrane region of the beta3 subunit of the GABA(A) receptor.

Author(s): 
Jurd, Rachel
Arras, Margarete
Lambert, Sachar
Drexler, Berthold
Siegwart, Roberta
Crestani, Florence
Zaugg, Michael
Vogt, Kaspar E.
Ledermann, Birgit
Antkowiak, Bernd
Rudolph, Uwe
Publication Title: 
FASEB journal: official publication of the Federation of American Societies for Experimental Biology

General anesthetics are among the most widely used and important therapeutic agents. The molecular targets mediating different endpoints of the anesthetic state in vivo are currently largely unknown. The analysis of mice carrying point mutations in neurotransmitter receptor subunits is a powerful tool to assess the contribution of the respective receptor subtype to the pharmacological actions of clinically used general anesthetics.

Author(s): 
Zeller, Anja
Arras, Margarete
Lazaris, Anelise
Jurd, Rachel
Rudolph, Uwe
Publication Title: 
Child and Adolescent Psychiatric Clinics of North America

This article reviews the etiology, clinical characteristics, and treatment of inflammatory bowel disease (IBD) and associated psychological sequelae in children and adolescents with this lifelong disease. Pediatric-onset IBD, consisting of Crohn's disease and ulcerative colitis, has significant medical morbidity and in many young persons is also associated with psychological and psychosocial challenges.

Author(s): 
Szigethy, Eva
McLafferty, Laura
Goyal, Alka

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