Elsevier

Genomics

Volume 32, Issue 1, 15 February 1996, Pages 171-172
Genomics

Brief Reports
Assignment of the Dentatorubral and Pallidoluysian Atrophy (DRPLA) Gene to 12p13.31 by Fluorescencein SituHybridization

https://doi.org/10.1006/geno.1996.0100Get rights and content

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    Although detailed physiological functions of DRPLA protein remain to be elucidated, recent studies on the Drosophila gene encoding the ortholog of DRPLA protein suggest that DRPLA proteins function as transcriptional corepressors (Zhang et al., 2002). The gene for DRPLA was mapped to 12p13.31 by in-situ hybridization (Takano et al., 1996). The human DRPLA gene spans approximately 20 kb and consists of 10 exons, with the CAG repeats located in exon 5 (Nagafuchi et al., 1994b).

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    It is a polyglutamine disorder with CAG repeats (Kanazawa, 1998) in the atrophin-1 gene located on chromosome 12p13.31. ( Takano et al., 1996). Similarly to HD, repeat size correlates with age of onset and disease severity.

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    The neuroprotective activity of HN appears to be somewhat selective as neither HN nor HNG protects neuronal cells from neurotoxicity induced by free radicals (multiple superoxide dismutase 1 (SOD-1) mutants), Fas activators, or etoposide [18]. Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder linked to disruption of polyglutamine (polyQ) segment length (the polyglutamine repeat) [34, 61]. Intracellular aggregates of polyglutamine induce activation of apoptosis signal-regulating kinase 1 (ASK1) and cellular death [33, 35, 43, 45, 52].

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