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Genetics and Genomics

Selected Works

2012

DNA

Articles 1 - 3 of 3

Full-Text Articles in Life Sciences

Fanconi Anemia Protein Fancd2 Inhibits Trf1 Polyadp-Ribosylation Through Tankyrase1-Dependent Manner, Alex Lyakhovich, Maria Ramirez, Andres Castella, Amanda Simons, Jeffrey Parvin, Jordi Suralles Dec 2012

Fanconi Anemia Protein Fancd2 Inhibits Trf1 Polyadp-Ribosylation Through Tankyrase1-Dependent Manner, Alex Lyakhovich, Maria Ramirez, Andres Castella, Amanda Simons, Jeffrey Parvin, Jordi Suralles

Amanda Simons

Background: Fanconi anemia (FA) is a rare autosomal recessive syndrome characterized by developmental abnormalities, progressive bone marrow failure, and predisposition to cancer. The key FA protein FANCD2 crosstalks with members of DNA damage and repair pathways that also play a role at telomeres. Therefore, we investigated whether FANCD2 has a similar involvement at telomeres. Results: We reveal that FANCD2 may perform a novel function separate to the FANCD2/BRCA pathway. This function includes FANCD2 interaction with one of the telomere components, the PARP family member tankyrase-1. Moreover, FANCD2 inhibits tankyrase-1 activity in vitro. In turn, FANCD2 deficiency increases the polyADPribosylation of …


Evolution Of Repetitive Proteins: Spider Silks From Nephila Clavipes (Tetragnathidae) And Araneus Bicentenarius (Araneidae), Richard D. Beckwitt, Steven Arcidiacono, Robert Stote Dec 2012

Evolution Of Repetitive Proteins: Spider Silks From Nephila Clavipes (Tetragnathidae) And Araneus Bicentenarius (Araneidae), Richard D. Beckwitt, Steven Arcidiacono, Robert Stote

Richard D Beckwitt

Spider silks are highly repetitive proteins, characterized by regions of polyalanine and glycine-rich repeating units. We have obtained two variants of the Spidroin 1 (NCF-1) silk gene sequence from Nephila clavipes. One sequence (1726 bp) was from a cloned cDNA, and the other (1951 bp) was from PCR of genomic DNA. When these sequences are compared with each other and the previously published Spidroin 1 sequence, there are differences due to sequence rearrangements, as well as single base substitutions. These variations are similar to those that have been reported from other highly repetitive genes, and probably represent the results …


A Polymorphic Dna Marker Linked To Cystic Fibrosis Is Located On Chromosome 7, Robert Knowlton, Odile Cohen-Haguenauer, Nguyen Van Cong, Jean Frézal, Valerie Brown, David Barker, Jeffrey Braman, James Schumm, Lap-Chee Tsui, Manuel Buchwald, Helen Donis-Keller Aug 2012

A Polymorphic Dna Marker Linked To Cystic Fibrosis Is Located On Chromosome 7, Robert Knowlton, Odile Cohen-Haguenauer, Nguyen Van Cong, Jean Frézal, Valerie Brown, David Barker, Jeffrey Braman, James Schumm, Lap-Chee Tsui, Manuel Buchwald, Helen Donis-Keller

Helen Donis-Keller

Although cystic fibrosis (CF) is among the most common inherited diseases in Caucasian populations, the basic biochemical defect is not yet known. CF is inherited as an autosomal recessive trait apparently due to mutations in a single gene, whence the efforts made to identify the genetic locus responsible by linkage studies. Two markers have recently been identified that are genetically linked to CF: one is a genetic variation in serum level of activity of the enzyme paraoxonase, and the other is a restriction fragment length polymorphism (RFLP) identified with a randomly isolated DNA probe. We report here that the genetic …