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GM03200 LCL from B-Lymphocyte

Description:

FRAGILE X MENTAL RETARDATION SYNDROME
FMR1 GENE; FMR1

Affected:

Yes

Sex:

Male

Age:

34 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Class Disorders with Trinucleotide Expansions
Class X Chromosome Markers
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks 46,fra(X)(q27),Y; 17% in PBL and 7 to 50% of lymphoblasts using FudR; negative for FMR-1 gene expression; affected male by Southern analysis

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
X CHROMOSOME FRAGILE SITE Pieretti et al (Cell 66:817-822,1991) reported that there was no detectable expression of the gene, FMR-1, that is expressed in brain at the fragile X locus in this lymphoblast culture established from a male with fragile X syndrome.
 
Gene FMR1
Chromosomal Location Xq27.3
Allelic Variant 1 309550.0004; FRAGILE X MENTAL RETARDATION SYNDROME
Identified Mutation (CGG)n EXPANSION; The usual cause of the fragile X syndrome is an expanded (CGG)n repeat in the 5-prime noncoding region of the FMR1 gene.

Phenotypic Data

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Remarks 46,fra(X)(q27),Y; 17% in PBL and 7 to 50% of lymphoblasts using FudR; negative for FMR-1 gene expression; affected male by Southern analysis

Publications

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Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021
PubMed ID: 35394024
 
Joshi I, DeRycke J, Palmowski M, LeSuer R, Feng W, Genome-wide mapping of DNA double-strand breaks from eukaryotic cell cultures using Break-seq STAR protocols2:100554 2021
PubMed ID: 34189468
 
Chakraborty A, Jenjaroenpun P, Li J, El Hilali S, McCulley A, Haarer B, Hoffman EA, Belak A, Thorland A, Hehnly H, Schildkraut C, Chen CL, Kuznetsov VA, Feng W, Replication Stress Induces Global Chromosome Breakage in the Fragile X Genome Cell reports32:108179 2020
PubMed ID: 32966779
 
Kumari D, Sciascia N, Usdin K, Small Molecules Targeting H3K9 Methylation Prevent Silencing of Reactivated Genes11:108179 2020
PubMed ID: 32230785
 
Kurosaki T, Imamachi N, Pröschel C, Mitsutomi S, Nagao R, Akimitsu N, Maquat LE, Loss of the fragile X syndrome protein FMRP results in misregulation of nonsense-mediated mRNA decay Nature cell biology23:40-48 2019
PubMed ID: 33420492
 
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ, Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS American journal of human genetics105:151-165 2019
PubMed ID: 31230722
 
Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M, Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data American journal of human genetics105:151-165 2017
PubMed ID: 30503517
 
Kumari D, Swaroop M, Southall N, Huang W, Zheng W, Usdin K, High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells Stem cells translational medicine4:800-8 2014
PubMed ID: 25999519
 
Smith KT, Nicholls RD, Reines D, The gene encoding the fragile X RNA-binding protein is controlled by nuclear respiratory factor 2 and the CREB family of transcription factors Nucleic acids research34:1205-15 2006
PubMed ID: 16500891
 
Smith KT, Coffee B, Reines D, Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo. Hum Mol Genet13(15):1611-21 2004
PubMed ID: 15175277
 
Coffee B, Zhang F, Ceman S, Warren ST, Reines D, Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome. Am J Hum Genet71(4):923-32 2002
PubMed ID: 12232854
 
Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL, Absence of expression of the FMR-1 gene in fragile X syndrome. Cell66:817-22 1991
PubMed ID: 1878973
 
Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, et al, Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell65:905-14 1991
PubMed ID: 1710175
 
Vincent A, Heitz D, Petit C, Kretz C, Oberle I, Mandel JL, Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature349:624-6 1991
PubMed ID: 1672039
 
Yu WD, Wenger SL, Steele MW, X chromosome imprinting in fragile X syndrome. Hum Genet85:590-4 1990
PubMed ID: 2227950
 
Abruzzo MA, Hunt PA, Mayer M, Jacobs PA, Wang JC, Erbe RW, Cytogenetic analysis of lymphoblastoid cell lines. Cytogenet Cell Genet42:169-73 1986
PubMed ID: 3731885
 
Ledbetter DH, Airhart SD, Nussbaum RL, Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male. Am J Med Genet23:429-43 1986
PubMed ID: 2937298
 
Cantu ES, Nussbaum RL, Airhart SD, Ledbetter DH, Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity. Am J Hum Genet37:947-55 1985
PubMed ID: 2931977
 
Rattner JB, Lin CC, Radial loops and helical coils coexist in metaphase chromosomes. Cell42:291-6 1985
PubMed ID: 4016953
 
Howard-Peebles PN, Pryor JC, Marker X chromosomes and tissue-culture conditions [letter] N Engl J Med301:166 1979
PubMed ID: 36560
 
Howard-Peebles PN, Stoddard GR, Mims MG, Familial X-linked mental retardation, verbal disability, and marker X chromosomes. Am J Hum Genet31:214-22 1979
PubMed ID: 453204

External Links

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dbSNP dbSNP ID: 10621
Gene Cards FMR1
Gene Ontology GO:0003729 mRNA binding
GO:0005625 soluble fraction
GO:0005654 nucleoplasm
GO:0005840 ribosome
GO:0005844 polysome
GO:0006397 mRNA processing
GO:0006406 mRNA-nucleus export
GO:0006810 transport
NCBI Gene Gene ID:2332
NCBI GTR 300624 FRAGILE X SYNDROME; FXS
309550 FMRP TRANSLATIONAL REGULATOR 1; FMR1
OMIM 300624 FRAGILE X SYNDROME; FXS
309550 FMRP TRANSLATIONAL REGULATOR 1; FMR1
Omim Description FRAGILE X MENTAL RETARDATION SYNDROME

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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