title: Detection of an unstable non-coding tandem repeat in the ZNF291 gene.
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.
authors.affiliation: Dipartimento di Biopatologia e Diagnostica per Immagini, Facoltà di Medicina e Chirurgia, Università di Roma "Tor Vergata", 00133 Roma, Italy. lauravallo@yahoo.it
authors.forename: Vallo
authors.initials: V
authors.lastname: Laura
authors.forename: Bonifazi
authors.initials: B
authors.lastname: Emanuela
authors.forename: Angelini
authors.initials: A
authors.lastname: Corrado
authors.forename: Novelli
authors.initials: N
authors.lastname: Giuseppe
authors.forename: Botta
authors.initials: B
authors.lastname: Annalisa
mesh_terms: 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*
chemical_list: D002352:Carrier Proteins; D012333:RNA, Messenger; C523211:SCAPER protein, human