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
|
White
|
|
Family Member
|
6
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
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 |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
| |
| 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 |
Clinically normal; affected brother and 2 nephews; negative for fra(X) in peripheral blood lymphocytes; normal transmitting male by Southern and PCR analyses; CGG repeat is 100-117; DNA obtained from the donor subject's lymphoblastoid cell line was sequenced in triplicate and the average CGG repeat in the FMR1 gene is 118 |
| 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 |
| |
| Suganuma T, Workman JL, MPTAC links alkylation damage signaling to sterol biosynthesis Redox biology51:102270 2021 |
| PubMed ID: 35189552 |
| |
| 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 |
| |
| Nakayama Y, Adachi K, Shioda N, Maeta S, Nanba E, Kugoh H, Establishment of FXS-A9 panel with a single human X chromosome from fragile X syndrome-associated individual Experimental cell research398:112419 2020 |
| PubMed ID: 33296661 |
| |
| 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 |
| |
| Rodriguez CM, Wright SE, Kearse MG, Haenfler JM, Flores BN, Liu Y, Ifrim MF, Glineburg MR, Krans A, Jafar-Nejad P, Sutton MA, Bassell GJ, Parent JM, Rigo F, Barmada SJ, Todd PK, A native function for RAN translation and CGG repeats in regulating fragile X protein synthesis Nature neuroscience105:151-165 2018 |
| PubMed ID: 32066985 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| Seneca S, Lissens W, Endels K, Caljon B, Bonduelle M, Keymolen K, De Rademaeker M, Ullmann U, Haentjens P, Van Berkel K, Van Dooren S, Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time The Journal of molecular diagnostics : JMD14:560-8 2011 |
| PubMed ID: 22921311 |
| |
| Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, Hagerman PJ, Stenzel TT, Hadd AG, Latham GJ, Tassone F, A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome Clinical chemistry56:399-408 2010 |
| PubMed ID: 20056738 |
| |
| 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 |
| |
| Amos Wilson J, Pratt VM, Phansalkar A, Muralidharan K, Highsmith WE, Beck JC, Bridgeman S, Courtney EM, Epp L, Ferreira-Gonzalez A, Hjelm NL, Holtegaard LM, Jama MA, Jakupciak JP, Johnson MA, Labrousse P, Lyon E, Prior TW, Richards CS, Richie KL, Roa BB, Rohlfs EM, Sellers T, Sherman SL, Siegrist KA, Silverman LM, Wiszniewska J, Kalman LV, the Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee LV, Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study Journal of Molecular Diagnostics10:2-12 2007 |
| PubMed ID: 18165276 |
| |
| Greene E, Mahishi L, Entezam A, Kumari D, Usdin K, Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia Nucleic acids research35:3383-90 2007 |
| PubMed ID: 17478498 |
| |
| Zhou Y, Law HY, Boehm CD, Yoon CS, Cutting GR, Ng IS, Chong SS, Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay. J Med Genet41(4):e45 2004 |
| PubMed ID: 15060121 |
| |
| Howard-Peebles PN, Friedman JM, Unaffected carrier males in families with fragile X syndrome. Am J Hum Genet37:956-64 1985 |
| PubMed ID: 3863482 |
|
|