title: Fanconi anemia cell lines deficient in alphaII spectrin express normal levels of alphaII spectrin mRNA.
abstract: Fanconi anemia is a genetic disorder characterized by hypersensitivity to DNA interstrand cross-linking agents and a defect in the ability to repair this type of damage. This deficiency correlates with reduced levels of alphaII spectrin, a structural protein involved in the repair of DNA interstrand cross-links. The present study addresses the question of whether the reduced levels of alphaII spectrin in FA-A, FA-C, and FA-G cells are due to reduced expression of this protein and/or due to differences in the three regions of alternate splicing of alphaII spectrin mRNA. Relative quantitative RT-PCR showed that levels of alphaII spectrin mRNA in the three FA cell lines were similar to normal as were the sites of alternative mRNA splicing. These results indicate that decreased levels of alphaII spectrin in these FA cell lines are not due to reduced expression of alphaII spectrin mRNA or due to differences in regions of alternate splicing of these transcripts, but rather appear to be related to reduced stability of alphaII spectrin in these cell lines.
authors.affiliation: Department of Pathology and Laboratory Medicine, UMDNJ-New Jersey Medical School and the Graduate School of Biomedical Sciences, Newark, NJ 07103, USA.
authors.forename: Joel A
authors.initials: JA
authors.lastname: Lefferts
authors.forename: Muriel W
authors.initials: MW
authors.lastname: Lambert
mesh_terms: D017398:Alternative Splicing; D002460:Cell Line; D005199:Fanconi Anemia / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D009154:Mutation; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013049:Spectrin / Q000235:genetics / Q000378:metabolism*
chemical_list: D012333:RNA, Messenger; D013049:Spectrin