Repeat instability is an important form of mutation that is responsible for several neurological, neurodegenerative and neuromuscular disorders. In this study we identified an unstable [CCTG]n repeat in the second intron of the ZNF291 gene, on chromosome 15q21-24. The repeat number is polymorphic in normal population and the ZNF291 transcript is expressed in different areas of human brain, skeletal muscle and heart. These findings suggest that ZNF291 gene should be taken in consideration as an attractive candidate for neuromuscular expansion related diseases mapping in this locus. © 2007 Elsevier Ltd. All rights reserved.
Detection of an unstable non-coding tandem repeat in the ZNF291 gene
Angelini C
Conceptualization
2007
Abstract
Repeat instability is an important form of mutation that is responsible for several neurological, neurodegenerative and neuromuscular disorders. In this study we identified an unstable [CCTG]n repeat in the second intron of the ZNF291 gene, on chromosome 15q21-24. The repeat number is polymorphic in normal population and the ZNF291 transcript is expressed in different areas of human brain, skeletal muscle and heart. These findings suggest that ZNF291 gene should be taken in consideration as an attractive candidate for neuromuscular expansion related diseases mapping in this locus. © 2007 Elsevier Ltd. All rights reserved.File in questo prodotto:
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