title: The consensus sequence of FAMLF alternative splice variants is overexpressed in undifferentiated hematopoietic cells.
abstract: The familial acute myeloid leukemia related factor gene (FAMLF) was previously identified from a familial AML subtractive cDNA library and shown to undergo alternative splicing. This study used real-time quantitative PCR to investigate the expression of the FAMLF alternative-splicing transcript consensus sequence (FAMLF-CS) in peripheral blood mononuclear cells (PBMCs) from 119 patients with de novo acute leukemia (AL) and 104 healthy controls, as well as in CD34+ cells from 12 AL patients and 10 healthy donors. A 429-bp fragment from a novel splicing variant of FAMLF was obtained, and a 363-bp consensus sequence was targeted to quantify total FAMLF expression. Kruskal-Wallis, Nemenyi, Spearman's correlation, and Mann-Whitney U-tests were used to analyze the data. FAMLF-CS expression in PBMCs from AL patients and CD34+ cells from AL patients and controls was significantly higher than in control PBMCs (P < 0.0001). Moreover, FAMLF-CS expression in PBMCs from the AML group was positively correlated with red blood cell count (rs =0.317, P=0.006), hemoglobin levels (rs = 0.210, P = 0.049), and percentage of peripheral blood blasts (rs = 0.256, P = 0.027), but inversely correlated with hemoglobin levels in the control group (rs = -0.391, P < 0.0001). AML patients with high CD34+ expression showed significantly higher FAMLF-CS expression than those with low CD34+ expression (P = 0.041). Our results showed that FAMLF is highly expressed in both normal and malignant immature hematopoietic cells, but that expression is lower in normal mature PBMCs.
authors.affiliation: Union Clinical Medical College, Fujian Medical University, Fuzhou, China.
authors.forename: W L
authors.initials: WL
authors.lastname: Chen
authors.affiliation: Union Clinical Medical College, Fujian Medical University, Fuzhou, China.
authors.forename: D F
authors.initials: DF
authors.lastname: Luo
authors.affiliation: Union Clinical Medical College, Fujian Medical University, Fuzhou, China.
authors.forename: C
authors.initials: C
authors.lastname: Gao
authors.affiliation: Union Clinical Medical College, Fujian Medical University, Fuzhou, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Ding
authors.affiliation: Union Clinical Medical College, Fujian Medical University, Fuzhou, China.
authors.forename: S Y
authors.initials: SY
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D017398:Alternative Splicing; D001772:Blood Cell Count; D016022:Case-Control Studies; D002648:Child; D016384:Consensus Sequence / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006412:Hematopoietic Stem Cells / Q000166:cytology*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D020033:Protein Isoforms / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D012016:Reference Values; D048348:Reverse Transcription; D018709:Statistics, Nonparametric; D055815:Young Adult
chemical_list: C541796:Mir181A1HG, human; D020033:Protein Isoforms; D011506:Proteins