An ancient retrotransposal insertion causes Fukuyama-type congenital muscular distrophy

Article Abstract:

Fukuyama-type congenital muscular dystrophy (FCMD) is a common autosomal recessive disorder in Japan. The FCMD gene has been mapped to a region of less than 100 kilobases, including the marker locus D9S2107. A haplotype shared by over 80% of FCMD chromosomes, has also been described. A retro-transposal insertion of tandemly repeated sequences in all FCMD chromosomes, is now reported. The inserted sequence is situated in the 3' untranslated area of a gene encoding a new 461-amino-acid. The gene is expressed in tissues in normal individuals, and not in FCMD patients carrying the insertion.

Birth defects, Observations, Muscular dystrophy

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A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage

Article Abstract:

It has been possible to identify a new ribonucleotide reductase gene, p53R2, that is a direct target for the p53 gene, often inactivated in human cancers. This research shows the p53-dependent DNA repair mechanism by which p53 is able to control DNA repair activity following genotoxic stresses through transcriptional induction of p53R2. It is suggested that the inactivation of p53 directly interferes with the transcription of p53R2 in response to DNA damage. This means that ribonucleotide reductase activity is not sufficient for normal DNA repair.

DNA repair, Genetic transcription, Transcription (Genetics), Ribonucleotides

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Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-alpha secretion in vitro

Article Abstract:

The role of lymphotoxin-alpha (LTA) cascade in the pathogenesis of myocardial infarction (MI) is examined. LTA and galectin-2 are the mediators of inflammation and are linked to the pathogenesis of MI.

Diagnosis, Heart attack

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