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Fragile X mental retardation 1
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| PDB rendering based on 2bkd. The Protein Data Bank ( PDB) is a repository for 3-D structural data of Proteins and Nucleic acids These data typically obtained by X-ray crystallography | ||
| Available structures: 2bkd, 2fmr | ||
| Identifiers | ||
| Symbol(s) | FMR1; FMRP; FRAXA; MGC87458 | |
| External IDs | OMIM: 309550 MGI: 95564 HomoloGene: 1531 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 2332 | 14265 |
| Ensembl | ENSG00000102081 | ENSMUSG00000000838 |
| Uniprot | Q06787 | Q6AXB7 |
| Refseq | NM_002024 (mRNA) NP_002015 (protein) |
XM_990299 (mRNA) XP_995393 (protein) |
| Location | Chr X: 146.8 - 146.84 Mb | Chr X: 64.94 - 64.98 Mb |
| Pubmed search | [1] | [2] |
FMR1 (fragile X mental retardation 1) is a human gene that codes for a protein called fragile X mental retardation protein, or FMRP. Human beings, humans or man (Origin 1590–1600 L homō man OL hemō the earthly one (see Humus History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance Proteins are large Organic compounds made of Amino acids arranged in a linear chain and joined together by Peptide bonds between the Carboxyl This protein is normally made in many tissues, especially in the brain and testes. The brain is the center of the Nervous system in animals All Vertebrates and the majority of Invertebrates have a brain The testicle (from Latin testiculus, diminutive of testis, meaning "witness" virility plural testes) is the male It may play a role in the development of synaptic connections between nerve cells in the brain, where cell-to-cell communication occurs. Chemical synapses are specialized junctions through which Neurons signal to each other and to non-neuronal cells such as those in Muscles or Glands Neurons (ˈnjuːɹɒn also known as neurones and nerve cells) are responsive cells in the Nervous system that process and transmit information The connections between nerve cells can change and adapt over time in response to experience (a characteristic called synaptic plasticity). In Neuroscience, synaptic plasticity is the ability of the connection or Synapse, between two Neurons to change in strength. FMRP may help regulate synaptic plasticity, which is important for learning and memory.
Researchers believe that FMRP acts as a shuttle within cells by carrying molecules of messenger RNA (mRNA), which contain information for protein synthesis. Messenger ribonucleic acid ( mRNA) is a molecule of RNA encoding a chemical "blueprint" for a Protein product FMRP carries mRNA molecules from the nucleus to areas of the cell where proteins are assembled. Some of these mRNA molecules may be important for the function of nerve cells.
One region of the FMR1 gene contains a 3 base Variable Number Tandem Repeat (VNTR, or more specifically, a trinucleotide repeat). A Variable Number Tandem Repeats (or VNTR) is a location in a Genome where a short Nucleotide sequence is organized as a Tandem repeat. The sequence CGG is repeated a number of times. In most healthy individuals, the number of CGG repeats ranges from fewer than 10 to about 40.
The FMR1 gene is located on the long (q) arm of the X chromosome at position 27. The X chromosome is one of the two sex-determining Chromosomes in many animal species including mammals (the other is the Y chromosome) 3, from base pair 146,699,054 to base pair 146,738,156. In Molecular biology, two Nucleotides on opposite complementary DNA or RNA strands that are connected via Hydrogen bonds are called
Related conditions
Fragile X syndrome: Almost all cases of fragile X syndrome are caused by expansion of the CGG trinucleotide repeat in the FMR1 gene. Fragile X syndrome, or Martin-Bell syndrome, is a genetic Syndrome which results in a spectrum (from none to severe of characteristic physical intellectual emotional In these cases, CGG is abnormally repeated from 200 to more than 1,000 times, which makes this region of the gene unstable {fact}. As a result, the FMR1 gene is methylated, which silences the gene (it is turned off and does not make any protein). Without adequate FMRP, severe learning deficits or mental retardation can develop, alonog with physical abnormalities seen in fragile X syndrome.
Some, fewer than 1 %, of all cases of fragile X syndrome are caused by mutations that delete part or all of the FMR1 gene, or change a base pair, leading to a change in one of the amino acids in the gene. In biology mutations are changes to the Nucleotide sequence of the Genetic material of an organism In Chemistry, an amino acid is a Molecule containing both Amine and Carboxyl Functional groups In Biochemistry, this These mutations disrupt the 3-dimensional shape of FMRP or prevent the protein from being synthesized, leading to the signs and symptoms of fragile X syndrome.
A CGG sequence in the FMR1 gene that is repeated about 55 to 200 times is described as a premutation expansion. Men, and probably some women, with this premutation do not have fragile X syndrome, but are at increased risk of developing a disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS is characterized by progressive problems with movement (ataxia), tremor, memory loss, loss of sensation in the lower extremities (peripheral neuropathy) and mental and behavioral changes. Ataxia (from Greek α- as a negative prefix + -τάξις, meaning "lack of order" is a neurological sign and symptom consisting Tremor is an unintentional somewhat rhythmic muscle movement involving to-and-from movements (oscillations of one or more parts of the body Memory loss can have many causes Alzheimer's disease is an illness which can cause mild to severe memory loss Peripheral neuropathy is the term for damage to Nerves of the Peripheral nervous system, which may be caused either by diseases of the Nerve or from the The disorder usually develops late in life.
Although most men and women with the premutation are intellectually normal, some of these individuals have mild versions of the physical features seen in fragile X syndrome (such as prominent ears) and may experience emotional problems such as anxiety or depression. About 20 % of women who carry a premutation expansion in the FMR1 gene experience premature ovarian failure (POF). POF is a loss of ovarian function in women younger than age 40, which can result in infertility. Female infertility|Male infertility Infertility primarily refers to the biological inability of a Man or a Woman to contribute to conception.
Researchers have found that some children with a premutation expansion in the FMR1 gene have learning disabilities, mental retardation, or disorders in the autism spectrum, characterized by deficits in communication and social interaction. Language development. The terminology
References
- Hagerman PJ, Hagerman RJ (2004). "The fragile-X premutation: a maturing perspective". Am J Hum Genet 74 (5): 805–16. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15052536.
- Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ (2004). "Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation". Am J Hum Genet 74 (5): 1051–6. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15065016.
- Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ (2004). "Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population". JAMA 291 (4): 460–9. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 14747503.
- Jin P, Alisch RS, Warren ST (2004). "RNA and microRNAs in fragile X mental retardation". Nat Cell Biol 6 (11): 1048–53. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15516998.
- Jin P, Warren ST (2003). "New insights into fragile X syndrome: from molecules to neurobehaviors". Trends Biochem Sci 28 (3): 152–8. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12633995.
- O'Donnell WT, Warren ST (2002). "A decade of molecular studies of fragile X syndrome". Annu Rev Neurosci 25: 315–38. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12052912.
- Oostra BA, Chiurazzi P (2001). "The fragile X gene and its function". Clin Genet 60 (6): 399–408. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 11846731.
- Oostra BA, Willemsen R (2003). "A fragile balance: FMR1 expression levels". Hum Mol Genet 12 Spec No 2: R249–57. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12952862.
- Nicola NA, Metcalf D (1991). "Subunit promiscuity among hemopoietic growth factor receptors. ". Cell 67 (1): 1–4. PMID 1913811.
- Sielska D, Milewski M, Bal J (2003). "[Molecular pathogenesis of fragile X syndrome]". Medycyna wieku rozwojowego 6 (4): 295–308. PMID 12810982.
- Bagni C, Greenough WT (2005). "From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome. ". Nat. Rev. Neurosci. 6 (5): 376–87. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15861180.
- Huber KM (2006). "The fragile X-cerebellum connection. ". Trends Neurosci. 29 (4): 183–5. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16500716.
- Loesch DZ, Bui QM, Dissanayake C, et al. (2007). "Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. ". Neuroscience and biobehavioral reviews 31 (3): 315–26. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 17097142.
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