DDX27

DDX27
Identifikatori
Aliasi	DDX27
Vanjski ID-jevi	OMIM: 616621 MGI: 2385884 HomoloGene: 6431 GeneCards: DDX27
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	49,244,077 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	166,876,867 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• nucleotide binding; • GO:0001948, GO:0016582 vezivanje za proteine; • hydrolase activity; • ATP binding; • GO:0008026 helicase activity; • nucleic acid binding; • vezivanje sa RNK;
Ćelijska komponenta	• Jedarce; • jedro; • hromosom; • citoplazma;
Biološki proces	• rRNA processing; • RNA secondary structure unwinding; • ribosome biogenesis;
	Izvori:Amigo / QuickGO
Ortolozi
	55661
	228889
	ENSG00000124228
	ENSMUSG00000017999
	Q96GQ7
	Q921N6
	NM_017895; NM_001348187
	NM_153065
	NP_060365; NP_001335116
	NP_694705
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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DEAD (Asp-Glu-Ala-Asp) boks polipeptid 27, znan i kaop DDX27, je ljudski gen.^[5] Protein kodiran ovim genom pripada porodici DEAD-proteinskih boksova, koje karakteriše konzervirani motiv Asp-Glu-Ala-Asp (DEAD), a navodne su RNK-helikaze. Uključeni su u brojne ćelijske procese koji u izmjeni sekundarne strukture RNK kao što su inicijacija translacije, prerada jedarne i mitohondrijske RNK i sklop ribosoma i splajsosoma. Na osnovu njihovih obrazaca raspodjele, vjeruje se da su neki članovi ove porodice uključeni u embriogenezu, spermatogenezu i rast i diobu ćelija. Ovaj gen kodira DEAD-boks protein, čija funkcija nije utvrđena.^[5]

Model organizmi

*Ddx27* fenotip nokaut-miša
Obiljwžjw	Fenotip
Homozigotna održivost	Nenormalna
Studija smrtonost recesivnih	Nenormalna
Plodnost	Normalna
Tjelesna težina	Normalna
Anksioznost (testa na životinjama \|	Normalna
Neurološka procjena	Normalna
Snaga prianjanja	Normalna
Grijna ploča	Normalna
Dismorfologija	Normalna
Indirektna kalorimetrija	Normalna
Test tolerancije glukoze	Normalan
Slušni odgovor moždanog debla	Normalan
DEXA	Normalna
Radiografija	Normalna
Tjelesna temperatura	Normalna
Morfologija oka	Normalna
Klinička hemija	Normalna
Plazmatski imunoglobulini	Normalni
Hematologija	Normalna
Limfociti periferne krvi	Normalni
Mikronucleus test	Normalan
Težina srca	Normalna
Cjelovitost repne epiderme	Normalna
Kožna histopatologija	Normalna
Mostovna histopatologija	Normalna
Salmonella infekcija	Normalna^[6]
Citrobacter infekcija	Normalna^[7]
Svi teastovi i analoze su prema ^[8]^[9]

U proučavanju funkcije DDX27 korišteni su model organizmi. Uslovna linija nokaut miša, zvana Ddx27^{tm1a(KOMP)Wtsi}^[10]^[11] generirana je kao dio programa Međunarodnog konzorcija za miševe, visokopropusnog projekta mutageneze za generiranje i distribuciju bolesti životinjskih modela zainteresiranim naučnicima.^[12]^[13]^[14]

Muške i ženske životinje prolazile su standardizirani fenotipski pregled kako bi se utvrdili učinci delecije.^[8]^[15] Izvedeno je dvadeset sedam testova i prijavljena su dva fenotipa. Nijedan homozigot ni mutirani embrion nije identifikovan tokom gestacije, a u zasebnoj studiji samo 1% je preživjelo do odvikavanja (značajno manje od Mendelovih odnosa). Preostali testovi su izvedeni na heterozigotnim mutiranim odraslim miševima; nisu opažene značajne abnormalnosti kod ovih životinja.^[8]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000124228 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000017999 - Ensembl, maj 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 "Entrez Gene: DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27".
^ "Salmonella infection data for Ddx27". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Ddx27". Wellcome Trust Sanger Institute.
^ ^a ^b ^c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium". Arhivirano s originala, 20. 3. 2012. Pristupljeno 5. 1. 2012.
^ "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 (juni 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (januar 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
^ 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.

Dopunska literatura

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
Andersen JS, Lyon CE, Fox AH, et al. (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. doi:10.1016/S0960-9822(01)00650-9. PMID 11790298. S2CID 14132033.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000124228 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000017999 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27".

[''Salmonella''_infection-6] "Salmonella infection data for Ddx27". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-7] "Citrobacter infection data for Ddx27". Wellcome Trust Sanger Institute.

[mgp_reference-8] Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.

[9] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-10] "International Knockout Mouse Consortium". Arhivirano s originala, 20. 3. 2012. Pristupljeno 5. 1. 2012.

[mgi_allele_ref-11] "Mouse Genome Informatics".

[pmid21677750-12] 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.

[mouse_library-13] Dolgin E (juni 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-14] Collins FS, Rossant J, Wurst W (januar 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.

[pmid21722353-15] 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.

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