Biology:NOM1
 Generic protein structure example |
Nucleolar protein with MIF4G domain 1 is a protein that in humans is encoded by the NOM1 gene.[1]
Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 Simmons, HM; Ruis, BL; Kapoor, M; Hudacek, AW; Conklin, KF (February 2005). "Identification of NOM1, a nucleolar, eIF4A binding protein encoded within the chromosome 7q36 breakpoint region targeted in cases of pediatric acute myeloid leukemia". Gene 347 (1): 137–45. doi:10.1016/j.gene.2004.12.027. PMID 15715967.).[supplied by OMIM].[1]
Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Abnormal |
| Recessive lethal study | Abnormal |
| Fertility | Normal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Abnormal[2] |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Skin Histopathology | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal[3] |
| Citrobacter infection | Normal[4] |
| All tests and analysis from[5][6] |
Model organisms have been used in the study of NOM1 function. A conditional knockout mouse line, called Nom1tm1a(KOMP)Wtsi[7] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[8][9][10]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][11] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.[5] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and females had an abnormal hair cycle.[5]
References
- ↑ 1.0 1.1 "Entrez Gene: Nucleolar protein with MIF4G domain 1". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=64434. Retrieved 2011-09-27.
- ↑ "Dysmorphology data for Nom1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBHH/dysmorphology/.
- ↑ "Salmonella infection data for Nom1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBHH/salmonella-challenge/.
- ↑ "Citrobacter infection data for Nom1". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBHH/citrobacter-challenge/.
- ↑ 5.0 5.1 5.2 5.3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica 88. doi:10.1111/j.1755-3768.2010.4142.x.
- ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ↑ "International Knockout Mouse Consortium". http://www.knockoutmouse.org/martsearch/search?query=Nom1.
- ↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M. et al. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMID 21677750.
- ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–263. doi:10.1038/474262a. PMID 21677718. http://www.nature.com/news/2011/110615/full/474262a.html.
- ↑ Collins, FS; Rossant, J; Wurst, W (January 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. 2011. doi:10.1186/gb-2011-12-6-224. PMID 21722353.
Further reading
- Heus, H. C.; Hing, A.; Van Baren, M. J.; Joosse, M.; Breedveld, G. J.; Wang, J. C.; Burgess, A.; Donnis-Keller, H. et al. (1999). "A Physical and Transcriptional Map of the Preaxial Polydactyly Locus on Chromosome 7q36". Genomics 57 (3): 342–351. doi:10.1006/geno.1999.5796. PMID 10329000.
- Simmons, H. M.; Ruis, B. L.; Kapoor, M.; Hudacek, A. W.; Conklin, K. F. (2005). "Identification of NOM1, a nucleolar, eIF4A binding protein encoded within the chromosome 7q36 breakpoint region targeted in cases of pediatric acute myeloid leukemia". Gene 347 (1): 137–145. doi:10.1016/j.gene.2004.12.027. PMID 15715967.
- Gunawardena, S. R.; Ruis, B. L.; Meyer, J. A.; Kapoor, M.; Conklin, K. F. (2007). "NOM1 Targets Protein Phosphatase I to the Nucleolus". Journal of Biological Chemistry 283 (1): 398–404. doi:10.1074/jbc.M706708200. PMID 17965019.
- Alexandrov, A.; Colognori, D.; Steitz, J. A. (2011). "Human eIF4AIII interacts with an eIF4G-like partner, NOM1, revealing an evolutionarily conserved function outside the exon junction complex". Genes & Development 25 (10): 1078–1090. doi:10.1101/gad.2045411. PMID 21576267.
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