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  • Title: The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.
    Author: Boles DJ, Proia RL.
    Journal: Am J Hum Genet; 1995 Mar; 56(3):716-24. PubMed ID: 7887427.
    Abstract:
    Tay-Sachs disease (TSD) is a catastrophic neurodegenerative disorder caused by mutations in the HEXA gene. The most common TSD allele worldwide contains a 4-bp insertion in exon 11 that produces a downstream premature termination codon. Despite normal transcription of this allele, HEXA mRNA is severely reduced, indicating that the HEXA transcript must be unstable. Minigenes of HEXA were constructed and expressed in mouse L cells, to investigate the relationship between the 4-bp insertion and mRNA deficiency. We conclude that the mRNA instability is caused by the premature termination codon and not by a cryptic mutation or by the 4-bp insertion directly and that degradation occurs coincident with or after splicing.
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