Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7

Abstract

ABP-280 is a ubiquitous actin binding protein present in the cytoskeleton of many different cell types. ABP-280 was mapped to distal Xq28, 50-60 kb downstream of the Green Colour Pigment (GCP) genes. To establish if ABP-280 may be a candidate for one of the muscle disease localized by linkage analysis to distal Xq28 we looked for alternative forms of ABP-280 mRNA. Several different ABP-280 mRNAs were indeed identified: two are X-linked and are produced by alternative splicing of a small exon of 24 nucleotides. At least one additional gene encoding a RNA more than 70% identical to ABP-280 in the 1700 bp sequenced has also been found. It was mapped to chromosome 7. While both forms of the X-linked ABP-280 are ubiquitous, the gene on chromosome 7 is highly expressed only in skeletal muscle and heart. The two genes were therefore excellent candidates for the X-linked and for the autosomal dominant form of the Emery-Dreifuss Muscular Dystrophy (EDMD) both of which have been described. So far, however we were unable to demonstrate mutations in the coding region or affecting the alternative splicing of the X-linked form of ABP-280, in several patients studied, and we think that it is quite unlikely that this is the gene responsible for EDMD.

Human β-Filamin Is a New Protein That Interacts with the Cytoplasmic Tail of Glycoprotein Ibα

“…ABP-280 cDNA has been cloned from a HUVEC cDNA library (6) and mapped to the X chromosome (7,8). ABP-280 has sometimes been referred to as human non-muscle filamin.…”

Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.

“…1A). In the contig, in addition to the GdX, P3, QM, and ABP-280 genes previously identified (14)(15)(16) 11 CpG islands and possible newly identified genes were mapped.…”

“…From a partial nucleotide sequence, oligonucleotide primers were designed (primers A and B in Fig. 2B) and used separately to prime reverse transcription of total RNA of HeLa (for [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] or intestine (for 16A) cell. The products of the two reactions were amplified by using internal primers (C and D in Fig.…”

Myofibrillar Myopathies and the Z-Disk Associated Proteins

“…FLNC belongs to the Filamin family of proteins characterised by their ability to cross link Actin. Three Filamin isoforms have been identified all of which are encoded by different genes [208,209]: Filamin A ( -Filamin or Filamin 1) and Filamin B ( -Filamin), which are ubiquitously expressed, and FLNC (Filamin 2, -Filamin, Actin Binding Protein 280 (ABP-280) or Actin Binding Protein Ligand (ABP-L)) [210][211][212], which is expressed specifically in striated and cardiac muscle [204,212]. In striated muscle, FLNC localises in two different pools: 97% of FLNC is contained within the Z-disk of the sarcomere and 3% is found in the sarcolemmal membrane at the level of the costameres and myotendinous junctions [213].…”