Detection of an unstable non-coding tandem repeat in the ZNF291 gene.
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.
Laura
Vallo
V
Dipartimento di Biopatologia e Diagnostica per Immagini, Facoltà di Medicina e Chirurgia, Università di Roma "Tor Vergata", 00133 Roma, Italy. lauravallo@yahoo.it
Emanuela
Bonifazi
B
Corrado
Angelini
A
Giuseppe
Novelli
N
Annalisa
Botta
B
D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006801:Humans; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020080:Tandem Repeat Sequences / Q000235:genetics*
D002352:Carrier Proteins; D012333:RNA, Messenger; C523211:SCAPER protein, human