Description:
FRAGILE X MENTAL RETARDATION SYNDROME
FMR1 GENE; FMR1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders with Trinucleotide Expansions |
| Class |
X Chromosome Markers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
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| 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. |
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| 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. |
| 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 |
| 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 |
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| 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 |
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| 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 |
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| Kumari D, Sciascia N, Usdin K, Small Molecules Targeting H3K9 Methylation Prevent Silencing of Reactivated Genes11:108179 2020 |
| PubMed ID: 32230785 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Yu WD, Wenger SL, Steele MW, X chromosome imprinting in fragile X syndrome. Hum Genet85:590-4 1990 |
| PubMed ID: 2227950 |
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| 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 |
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| 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 |
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| 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 |
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| Rattner JB, Lin CC, Radial loops and helical coils coexist in metaphase chromosomes. Cell42:291-6 1985 |
| PubMed ID: 4016953 |
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| Howard-Peebles PN, Pryor JC, Marker X chromosomes and tissue-culture conditions [letter] N Engl J Med301:166 1979 |
| PubMed ID: 36560 |
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| 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 |
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