Description:
FRAGILE X MENTAL RETARDATION SYNDROME
FMR1 GENE; FMR1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders with Trinucleotide Expansions |
| Class |
X Chromosome Markers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Black/African American
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY[20]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
| |
| 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 |
Macro-orchidism; mental retardation; 52% 46,fra(X)(q27),Y in PBL and 4% in fibroblasts; fra(X) observed in 0 to 50% of lymphoblasts using FudR; G6PD type A in blood; see GM04024 Fibroblast; CGG repeat size of 645 in the FMR1 gene as detected by PCR (normal size range is 5-45 repeats); full mutation (fully methylated) characteristic of Fragile X syndrome. |
| 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 |
| |
| Dolskiy AA, Yarushkin AA, Grishchenko IV, Lemskaya NA, Pindyurin AV, Boldyreva LV, Pustylnyak VO, Yudkin DV, miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy pathogenesis Non-coding RNA research6:1-7 2020 |
| PubMed ID: 33426406 |
| |
| Kumari D, Sciascia N, Usdin K, Small Molecules Targeting H3K9 Methylation Prevent Silencing of Reactivated Genes11:1-7 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 |
| |
| Sun JH, Zhou L, Emerson DJ, Phyo SA, Titus KR, Gong W, Gilgenast TG, Beagan JA, Davidson BL, Tassone F, Phillips-Cremins JE, Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries Cell175:224-238.e15 2018 |
| PubMed ID: 30173918 |
| |
| 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 genetics175:224-238.e15 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 |
| |
| Grasso M, Boon EM, Filipovic-Sadic S, van Bunderen PA, Gennaro E, Cao R, Latham GJ, Hadd AG, Coviello DA., A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis. J Mol Diagn.13:pii: S1525-1578 2013 |
| PubMed ID: 24177047 |
| |
| Adler K, Moore JK, Filippov G, Wu S, Carmichael J, Schermer M, A novel assay for evaluating fragile x locus repeats The Journal of molecular diagnostics : JMD13:614-20 2011 |
| PubMed ID: 21798368 |
| |
| Juusola JS, Anderson P, Sabato F, Wilkinson DS, Pandya A, Ferreira-Gonzalez A, Performance evaluation of two methods using commercially available reagents for PCR-based detection of FMR1 mutation The Journal of molecular diagnostics : JMD14:476-86 2011 |
| PubMed ID: 22765921 |
| |
| Lyon E, Laver T, Yu P, Jama M, Young K, Zoccoli M, Marlowe N, A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis The Journal of molecular diagnostics : JMD12:505-11 2010 |
| PubMed ID: 20431035 |
| |
| Lavedan CN, Garrett L, Nussbaum RL, Trinucleotide repeats (CGG)22TGG(CGG)43TGG(CGG)21 from the fragile X gene remain stable in transgenic mice. Hum Genet100:407-14 1997 |
| PubMed ID: 9272164 |
| |
| Maxwell IH, Glode LM, Maxwell F, Expression of the diphtheria toxin A-chain coding sequence under the control of promoters and enhancers from immunoglobulin genes as a means of directing toxicity to B-lymphoid cells. Cancer Res51:4299-304 1991 |
| PubMed ID: 1868451 |
| |
| 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 |
| |
| Ledbetter SA, Ledbetter DH, A common fragile site at Xq27: theoretical and practical implications. Am J Hum Genet42:694-702 1988 |
| PubMed ID: 3358421 |
| |
| Trent JM, Flink IL, Morkin E, van Tuinen P, Ledbetter DH, Localization of the human thyroxine-binding globulin gene to the long arm of the X chromosome (Xq21-22). Am J Hum Genet41:428-35 1987 |
| PubMed ID: 3115094 |
| |
| Ledbetter DH, Airhart SD, Nussbaum RL, Caffeine enhances fragile (X) expression in somatic cell hybrids. Am J Med Genet23:445-55 1986 |
| PubMed ID: 2937299 |
| |
| 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 |
| |
| Ledbetter DH, Ledbetter SA, Nussbaum RL, Implications of fragile X expression in normal males for the nature of the mutation. Nature324:161-3 1986 |
| PubMed ID: 3785381 |
| |
| Maxwell IH, Maxwell F, Glode LM, Regulated expression of a diphtheria toxin A-chain gene transfected into human cells: possible strategy for inducing cancer cell suicide. Cancer Res46:4660-4 1986 |
| PubMed ID: 3460697 |
| |
| Nussbaum RL, Airhart SD, Ledbetter DH, A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site. Am J Med Genet23:457-66 1986 |
| PubMed ID: 2937300 |
| |
| 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 |
| |
| Howard-Peebles PN, Stoddard GR, Race distribution in X-linked mental retardation with macro-orchidism and fragile site in Xq [letter] Am J Hum Genet32:629-30 1980 |
| PubMed ID: 6930822 |
|
|