| First Author | Barton DE | Year | 1987 |
| Journal | Cytogenet Cell Genet | Volume | 46 |
| Pages | 578 (Abstr.) | Mgi Jnum | J:4883 |
| Mgi Id | MGI:53364 | Citation | Barton DE, et al. (1987) NEAS encoding a non-erthyroid alpha-spectrin is on Chromosome 9, region q33-q34 and on mouse Chromosome 2. Cytogenet Cell Genet 46:578 (Abstr.) |
| abstractText | Full text of Abstract: Abstracts of workshop presentations. NEAS encoding a non-erythroid alpha- spectrin is on chromosome 9, region q33-q34 and on mouse chromosome 2. Barton DE,1 Yang-Feng TL,1 Leto T,2 Marchesi V,2 Francke U.1 Departments of 1Human Genetics, and 2Pathology, Yale University School of Medicine, New Haven, CT. The spectrins are a family of widely-distributed filamentous cytoskeletal proteins which have a highly-conserved 106 amino acid repeat structure. Spectrins are heterodimers of a constant alpha- chain and variable; tissue-specific Beta-chains. Functions of these proteins include regulation of receptor binding and actin cross-linking. Recently, an alpha-spectrin like clone has been isolated from a rat brain cDNA library (Leto et al. Mol Cell Biol, in press). This cDNA encodes a protein also known as alpha-fodrin. We have used this probe, RBF2, to determine the chromosomal location of human non-erythroid alpha-spectrin sequences by Southern blot analysis of DNA from 20 human x Chinese hamster somatic cell hybrid lines. Two restriction fragments, 14kb and 5.6kb in size, were detected in BglII digests of human DNA. Both human fragments were present in all hybrids which had retained an intact copy of human chromosome 9. In addition, two hybrids containing chromosomes 9 with partially deleted short arms (missing region pter-p21), were positive for the restriction fragments. These data indicate that the human non-erythroid alpha-spectrin locus (which we have designated NEAS) lies within the region 9p21-qter. Independent assignment was obtained by in situ hybridization of clone RBF2 to human metaphase chromosomes. Of 127 silver grains scored over chromosomes in 50 cells, 25 (20%) were on chromosome 9, at bands q33-q34. No other significant peaks of hybridization were observed. Thus, the in situ hybridization results refine the localization of the human SPTAN1 locus to 9q33-q34. In the mouse, Neas was mapped to chromosome 2 by Southern blot analysis of 20 mouse x hamster somatic cell hybrids. Three other human genes, ABL, FPGS and AK1 have also been mapped to HSA9q and MMU2. HGM symbol : SPTAN1 |
