Genes for SMA: multum in parvo
Article Abstract:
Two genes, SMN and NAIP, function as the genes for the recessive autosomal disease, spinal muscular atrophy (SMA). The SMN gene consists of 8 exons and spans over 20 kb while NAIP gene consists of 16 exons extending over 60 kb. Patients with SMA display a deletion in the 3'end of the SMA gene and a homozygous deletion in NAIP gene that are not seen in normal people, indicating their association with SMA. The transcript map of SMN and NAIP indicate that the region carrying the two genes also contains the disease-associated mutations.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1995
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The mystique of epigenetics
Article Abstract:
The epigenetic effect is a genetic phenomenon wherein two alleles exhibit different states of inheritance despite having the same genetic sequence. This can be achieved in processes such as the modification of proteins and the modification of the DNA. However, several conditions must be fulfilled. These include the creation of a different genetic structure and the perpetuation of the said structure. The effects of epigenetic modification are also discussed.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1998
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Multiple Ras functions can contribute to mammalian cell transformation
Article Abstract:
The yeast two-hybrid assay helps isolate Ha-Ras effector loop mutations that distinguish Ha-Ras capacity to interact with various downstream effectors. These mutations activate the foci of growth-transformed cells synergistically. Ha-Ras transformation of mammalian cells is lowered or totally abolished by the effector loop mutations. A Raf1 mutant reestablishes Ha-Ras interaction with downstream effectors and corrects the transformation defect.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1995
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