Sequence Deletion

Publication Title: 
Molecular Biology and Evolution

Insertions or deletions (indels) of amino acids residues have been recognized as an important source of genetic and structural divergence between paralogous Bcl-2 family members. However, these signature sequences have not so far been extensively investigated amongst orthologous Bcl-2 family proteins. Bcl2l10 is an antiapoptotic member of the Bcl-2 family that has evolved rapidly throughout the vertebrate lineage and which shows conserved abundant expression in eggs and oocytes.

Author(s): 
Guillemin, Yannis
Cornut-Thibaut, AurÈlie
Gillet, Germain
Penin, FranÁois
Aouacheria, Abdel
Publication Title: 
Molecular and Cellular Biology

SIRT3 is a member of the Sir2 family of NAD(+)-dependent protein deacetylases that promotes longevity in many organisms. The processed short form of SIRT3 is a well-established mitochondrial protein whose deacetylase activity regulates various metabolic processes. However, the presence of full-length (FL) SIRT3 in the nucleus and its functional importance remain controversial. Our previous studies demonstrated that nuclear FL SIRT3 functions as a histone deacetylase and is transcriptionally repressive when artificially recruited to a reporter gene.

Author(s): 
Iwahara, Toshinori
Bonasio, Roberto
Narendra, Varun
Reinberg, Danny
Publication Title: 
Journal of Theoretical Biology

The mitochondrial theory of ageing is one of the main contenders to explain the biochemical basis of the ageing process. An important line of support comes from the observation that mtDNA deletions accumulate over the life course in post-mitotic cells of many species. A single mutant expands clonally and finally replaces the wild-type population of a whole cell. One proposal to explain the driving force behind this accumulation states that the reduced size leads to a shorter replication time, which provides a selection advantage.

Author(s): 
Kowald, Axel
Dawson, Marcus
Kirkwood, Thomas B. L.
Publication Title: 
PLoS genetics

Caloric/dietary restriction (CR/DR) can promote longevity and protect against age-associated disease across species. The molecular mechanisms coordinating food intake with health-promoting metabolism are thus of significant medical interest. We report that conserved Caenorhabditis elegans microRNA-80 (mir-80) is a major regulator of the DR state.

Author(s): 
Vora, Mehul
Shah, Mitalie
Ostafi, Silvana
Onken, Brian
Xue, Jian
Ni, Julie Zhouli
Gu, Sam
Driscoll, Monica
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: 
Proceedings of the National Academy of Sciences of the United States of America

Telomerase synthesizes telomeric DNA by copying a short template sequence within its telomerase RNA component. We delineated nucleotides and base-pairings within a previously mapped central domain of the Saccharomyces cerevisiae telomerase RNA (TLC1) that are important for telomerase function and for binding to the telomerase catalytic protein Est2p. Phylogenetic comparison of telomerase RNA sequences from several budding yeasts revealed a core structure common to Saccharomyces and Kluyveromyces yeast species.

Author(s): 
Lin, Jue
Ly, Hinh
Hussain, Arif
Abraham, Mira
Pearl, Sivan
Tzfati, Yehuda
Parslow, Tristram G.
Blackburn, Elizabeth H.
Publication Title: 
BMC genomics

BACKGROUND: Classical and quantitative linkage analyses of genetic crosses have traditionally been used to map genes of interest, such as those conferring chloroquine or quinine resistance in malaria parasites. Next-generation sequencing technologies now present the possibility of determining genome-wide genetic variation at single base-pair resolution. Here, we combine in vivo experimental evolution, a rapid genetic strategy and whole genome re-sequencing to identify the precise genetic basis of artemisinin resistance in a lineage of the rodent malaria parasite, Plasmodium chabaudi.

Author(s): 
Hunt, Paul
Martinelli, Axel
Modrzynska, Katarzyna
Borges, Sofia
Creasey, Alison
Rodrigues, Louise
Beraldi, Dario
Loewe, Laurence
Fawcett, Richard
Kumar, Sujai
Thomson, Marian
Trivedi, Urmi
Otto, Thomas D.
Pain, Arnab
Blaxter, Mark
Cravo, Pedro
Publication Title: 
The EMBO journal

Amongst the picornaviruses, poliovirus encodes a single copy of the genome-linked protein, VPg wheras foot-and-mouth disease virus uniquely encodes three copies of VPg. We have previously shown that a genetically engineered poliovirus genome containing two tandemly arranged VPgs is quasi-infectious (qi) that, upon genome replication, inadvertently deleted one complete VPg sequence. Using two genetically marked viral genomes with two VPg sequences, we now provide evidence that this deletion occurs via homologous recombination.

Author(s): 
Cao, X.
Wimmer, E.
Publication Title: 
Proceedings of the National Academy of Sciences of the United States of America

The formation of polyglutamine-containing aggregates and inclusions are hallmarks of pathogenesis in Huntington's disease that can be recapitulated in model systems. Although the contribution of inclusions to pathogenesis is unclear, cell-based assays can be used to screen for chemical compounds that affect aggregation and may provide therapeutic benefit. We have developed inducible PC12 cell-culture models to screen for loss of visible aggregates.

Author(s): 
Apostol, Barbara L.
Kazantsev, Alexsey
Raffioni, Simona
Illes, Katalin
Pallos, Judit
Bodai, Laszlo
Slepko, Natalia
Bear, James E.
Gertler, Frank B.
Hersch, Steven
Housman, David E.
Marsh, J. Lawrence
Thompson, Leslie Michels
Publication Title: 
American Journal of Human Genetics

Acute intermittent porphyria (AIP) is the major autosomal dominant form of acute hepatic porphyrias. The disease is due to mutations in the gene encoding for porphobilinogen (PBG) deaminase and is characterized by life-threatening neurovisceral attacks, often precipitated by drugs, fasting, cyclical hormonal changes, or infectious diseases. This report describes a prospective study on the molecular epidemiology of PBG deaminase gene defects in AIP.

Author(s): 
Puy, H.
Deybach, J. C.
Lamoril, J.
Robreau, A. M.
Da Silva, V.
Gouya, L.
Grandchamp, B.
Nordmann, Y.

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