title: Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.
abstract: The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms. ALMS1 mutations cause Alstrom syndrome, a rare genetic disorder. However, its function is not completely understood. DNA microarray analysis suggested that ALMS1 might be differentially expressed between Hodgkin lymphoma (HL) cells and normal tissues. By using reverse transcription-polymerase chain reaction (RT-PCR) we detected low but variable expression of ALMS1 in HL cell lines with highest expression in KM-H2 cells. Immunofluorescence indicated centrosomal accumulation of ALMS1 protein in HL cells. Knock-down of ALMS1 in KM-H2 cells had no impact on viability or cytotoxic drug sensitivity of these cells. Sequencing of RT-PCR products from HL cell lines identified three variable regions in ALMS1 transcripts that affect exons 2, 13, and 23. One of these variants was characterized by splicing out of exon 13. The other variants are characterized by two alternative 5 prime ends or alternative 3 prime ends. Structure prediction of the corresponding RNAs and proteins suggest that the different transcript variants might affect posttranscriptional regulation and ligand binding.
authors.affiliation: Department of Pediatrics, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.
authors.forename: Katarina
authors.initials: K
authors.lastname: Braune
authors.affiliation: Department of Pediatrics, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.
authors.forename: Ines
authors.initials: I
authors.lastname: Volkmer
authors.affiliation: Department of Pediatrics, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.
authors.forename: Martin S
authors.identifier: http://orcid.org/0000-0003-3765-7068
authors.initials: MS
authors.lastname: Staege
mesh_terms: D056769:Alstrom Syndrome / Q000235:genetics*; D018797:Cell Cycle Proteins; D045744:Cell Line, Tumor; D015972:Gene Expression Regulation, Neoplastic; D006689:Hodgkin Disease / Q000235:genetics*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012815:Signal Processing, Computer-Assisted
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins; D012333:RNA, Messenger