@article{cdb10dddc17c4c1eba931e1cae8537c0,
title = "Identification and characterization of transcripts from the neurofibromatosis 1 region: The sequence and genomic structure of EVI2 and mapping of other transcripts",
abstract = "Mapping of the EVI2 gene between the translocation breakpoints of two patients with neurofibromatosis type 1 (NF1), combined with the likely role of its murine homolog in neoplastic disease, implicates EVI2 as a possible candidate for the NF1 gene. We report here the expression of a 1.6-kb EVI2 transcript in normal human brain and peripheral blood mononuclear cells. Sequencing studies predict an EVI2 protein of 232 amino acids that contains an N-terminal signal peptide, an extracellular domain with five potential glycosylation sites, a single hydrophobic transmembrane domain with a leucine zipper, and a hydrophilic cytoplasmic domain. These features are all well-conserved with respect to the mouse Evi-2 protein and are consistent with the hypothesis that EVI2 is a membrane protein that may complex with itself and/or other proteins within the membrane, perhaps to function as part of a cell-surface receptor. In the course of these studies we have also identified three other transcripts (classes of cDNAs) from the NF1 region. Two of these transcripts map between the NF1 translocation breakpoints; the remaining transcript maps just outside this region.",
author = "Cawthon, {Richard M.} and Peter O'Connell and Buchberg, {Arthur M.} and David Viskochil and Weiss, {Robert B.} and Melanie Culver and Jeffrey Stevens and Jenkins, {Nancy A.} and Copeland, {Neal G.} and Ray White",
note = "Funding Information: Lymphoblastoid cell lines from normal and NFl individuals, established in our laboratory by transformation of peripheral blood mononuclear cells with Epstein-Barr virus, and somatic cell hybrid lines containing various portions of chromosome 17 were maintained in culture as described by O{\textquoteright}Connell et al. (1990) in the accompanying manuscript. Skin fibro- blasts were grown in Dulbecco{\textquoteright}s modified Eagle{\textquoteright}s medium supplemented with 10% fetal bovine serum and passaged every 5-7 days with a trypsin/EDTA solution. Mononuclear cells were prepared from whole peripheral blood by the LeucoPREP procedure according to the manufacturer{\textquoteright}s instructions (Becton Dickinson and Co., Lincoln Park, NJ). Bone marrow aspirates (performed at University Hospital, University of Utah Medical Center, with informed consent of the patients and Institutional Review Board approval) drawn into tubes with heparin were spun at 2000 rpm for 10 min in a tabletop centrifuge; the pellets were then used for preparation of total RNA (see below). Other tissues removed from patients for therapeutic reasons or at autopsy were immediately placed in liquid nitrogen and stored at -135°C until used for RNA preparation. Some tissue specimens were obtained from the National Neurological Research Bank (Veterans Administration Medical Center Wadsworth, Los Angeles, CA), which is sponsored by NINCDS/NIMH, NMSS, HD Foundation, TS Association, and the Veterans Administration. Funding Information: We thank V. M. Riccardi and D. Fults for providing NFl tissues; M. Robertson for the fluorescent sequencing of EV12 cDNAs on the Applied Biosystems, Inc., Model 370A DNA sequencer; S. Nothwehr for analyzing EV12 with the SIGSEQ programs; and M. Emi, J. Groden, G. Joslin, L. Gelbert, and J. Swent for helpful discussions. R. Foltz edited the manuscript and prepared the figures. This work was supported in part by the National Cancer Institute, Department of Health and Human Services, under Contract NOl-CO-74101 with BRI. R. White is an Investigator at the Howard Hughes Medical Institute.",
year = "1990",
month = aug,
doi = "10.1016/0888-7543(90)90199-5",
language = "English (US)",
volume = "7",
pages = "555--565",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press",
number = "4",
}