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Protein-coding gene in the species Homo sapiens
DIP2 disco-interacting protein 2 homolog B (Drosophila) is a protein that in humans is encoded by the DIP2B gene .[ 5] protein family , it contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 , as well as AMP-binding sites. The presence of these sites suggests that DIP2B may participate in DNA methylation . This gene is located near a folate-sensitive fragile site .[ 5] [ 6]
Model organisms
Model organisms have been used in the study of DIP2B function. A conditional knockout mouse line, called Dip2btm1a(EUCOMM)Wtsi [ 12] [ 13] International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[ 14] [ 15] [ 16]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[ 10] [ 17] mutant mice and three significant abnormalities were observed.[ 10] homozygous mutant mice survived until weaning . The remaining tests were carried out on heterozygous mutant adult mice; abnormal fertility and decreased mean corpuscular haemoglobin levels were observed in these animals.[ 10]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000066084 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023026 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "DIP2 disco-interacting protein 2 homolog B (Drosophila)" . Retrieved 2011-12-05 .^ Winnepenninckx, B.; Debacker, K.; Ramsay, J.; Smeets, D.; Smits, A.; Fitzpatrick, D. R.; Kooy, R. F. (2007). "CGG-Repeat Expansion in the DIP2B Gene is Associated with the Fragile Site FRA12A on Chromosome 12q13.1" . The American Journal of Human Genetics . 80 (2): 221–231. doi :10.1086/510800 . PMC 1785358 PMID 17236128 . ^ "Haematology data for Dip2b" . Wellcome Trust Sanger Institute.^ "Salmonella infection data for Dip2b" . Wellcome Trust Sanger Institute.^ "Citrobacter infection data for Dip2b" . Wellcome Trust Sanger Institute.^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica . 88 : 925–7. doi :10.1111/j.1755-3768.2010.4142.x . S2CID 85911512 . ^ Mouse Resources Portal , Wellcome Trust Sanger Institute.^ "International Knockout Mouse Consortium" .[permanent dead link ^ "Mouse Genome Informatics" .^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function" . Nature . 474 (7351): 337–342. doi :10.1038/nature10163 . PMC 3572410 PMID 21677750 . ^ Dolgin E (2011). "Mouse library set to be knockout" . Nature . 474 (7351): 262–3. doi :10.1038/474262a PMID 21677718 . ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons" . Cell . 128 (1): 9–13. doi :10.1016/j.cell.2006.12.018 PMID 17218247 . S2CID 18872015 . ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism" . Genome Biol . 12 (6): 224. doi :10.1186/gb-2011-12-6-224 . PMC 3218837 PMID 21722353 . {{cite journal }}: CS1 maint: unflagged free DOI (link )
Further reading
Houlston, R. S.; Cheadle, J.; Dobbins, S. E.; Tenesa, A.; Jones, A. M.; Howarth, K.; Spain, S. L.; Broderick, P.; Domingo, E.; Farrington, S.; Prendergast, J. G. D.; Pittman, A. M.; Theodoratou, E.; Smith, C. G.; Olver, B.; Walther, A.; Barnetson, R. A.; Churchman, M.; Jaeger, E. E. M.; Penegar, S.; Barclay, E.; Martin, L.; Gorman, M.; Mager, R.; Johnstone, E.; Midgley, R.; Niittymäki, I.; Tuupanen, S.; Colley, J.; Idziaszczyk, S. (2010). "Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33" . Nature Genetics . 42 (11): 973–977. doi :10.1038/ng.670 . PMC 5098601 PMID 20972440 .
