Mikrozefalina

Mikrozefalina (MCPH1) umekiaren burmuinaren garapenean adierazten den gene bat da. MCPH1ren mutazio batzuek, homozigotikoa denean, mikrozefalia gaixotasuna eragin dezakete, burmuinaren tamaina nabarmen murrizten duena^[6][7][8][9]. Horrela, ulertu da MCHP1ren aldaerek burmuinaren garapenari lotuta daudela^[10][11]. Hala ere, indibiduo arruntetan ez da oraindik aurkitu inongo ezberdintasunik adimenari edo portaerari dagokionez ez gene honekin ez ASPM mikrozefaliaren beste genean^[12][13].

Mikrozefalina
Egitura erabilgarria PDB Ortologoaren bilaketa: PDBe RCSB PDB ID kodeen zerrenda 3T1N, 3SHT, 2WT8, 3SHV, 3U3Z, 3KTF, 3PA6, 3SZM
Identifikatzaileak
Aliasak	MCPH1 (HUGO), BRIT1, MCT, microcephalin 1
Kanpoko IDak	OMIM: 607117   MGI: 2443308   HomoloGene: 32586   GeneCards: MCPH1   OMA: MCPH1 - orthologs
Genetikoki lotutako gaixotasunak
Leukopenia, microcephaly 1, primary, autosomal recessive  [1]
Genearen kokapena (gizakia) Kromosoma: 8 (gizakia)[2] Banda 8p23.1 Hasiera 6.406.592 bp[2] Amaiera 6.648.508 bp[2]
Genearen kokapena (sagua) Kromosoma: 8 (sagua)[3] Banda 8|8 A1.3 Hasiera 18.645.147 bp[3] Amaiera 18.853.205 bp[3]
RNA adierazpen eredua Bgee gizakia sagua (ortholog) Adierazpen ohikoena secondary oocyte  ganglionic eminence  Orpazurda ventricular zone  bone marrow cells  Muskulu gastroknemio muscle of thigh  popliteal artery  Tibial arteries  Barrabil Adierazpen ohikoena zigoto secondary oocyte  esku tail of embryo  primary oocyte  genital tubercle  spermatocyte  primitive streak  epiblast  otic vesicle  Erreferentziazko adierazpen datu gehiago BioGPS
Gene ontologia Funtzio molekularra proteina lotura  identical protein binding  Zelularen osagaia zitoplasma  zitoeskeleto  Nukleoplasma  microtubule organizing center  Prozesu biologikoa cerebral cortex development  establishment of mitotic spindle orientation  gene-erregulazio  regulation of kinase activity  regulation of centrosome cycle  regulation of inflammatory response  bone development  regulation of chromosome condensation  protein localization to centrosome  neuronal stem cell population maintenance  negative regulation of transcription by RNA polymerase II  Iturburuak: : Amigo / QuickGO
Ortologoak Espeziea Gizakia Sagua Entrez 79648 244329 Ensembl ENSG00000147316 ENSG00000285262 ENSMUSG00000039842 UniProt Q8NEM0 Q7TT79 RefSeq (RNAm) NM_001172574 NM_001172575 NM_024596 NM_001322042 NM_001322043 NM_001322045 NM_001363979 NM_001363980 NM_173189 RefSeq (proteina) NP_001166045 NP_001166046 NP_001308971 NP_001308972 NP_001308974 NP_078872 NP_001350908 NP_001350909 NP_775281 Kokapena (UCSC) Chr 8: 6.41 – 6.65 Mb Chr 8: 18.65 – 18.85 Mb PubMed bilaketa [4] [5]
Wikidata
Ikusi/Editatu giza genea Ikusi/Editatu saguaren genea

Erreferentziak

1. Genetikoki lotutako gaixotasunak Mikrozefalinaikusi/editatu erreferentziak Wikidatan. .
2. ENSG00000285262 GRCh38: Ensembl release 89: ENSG00000147316, ENSG00000285262 - Ensembl, May 2017
3. GRCm38: Ensembl release 89: ENSMUSG00000039842 – Ensembl, May 2017
4. Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
6. Jackson, Andrew P.; Eastwood, Helen; Bell, Sandra M.; Adu, Jimi; Toomes, Carmel; Carr, Ian M.; Roberts, Emma; Hampshire, Daniel J. et al.. (2002-07). «Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain» The American Journal of Human Genetics 71 (1): 136–142.  doi:10.1086/341283. ISSN 0002-9297. PMID 12046007. PMC PMC419993. (Noiz kontsultatua: 2024-01-18).
7. (Ingelesez) «Entry - #251200 - MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 - OMIM» omim.org (Noiz kontsultatua: 2024-01-18).
8. Jackson, Andrew P.; McHale, Duncan P.; Campbell, David A.; Jafri, Hussain; Rashid, Yasmin; Mannan, Jovaria; Karbani, Gulshan; Corry, Peter et al.. (1998-08). «Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter» The American Journal of Human Genetics 63 (2): 541–546.  doi:10.1086/301966. ISSN 0002-9297. PMID 9683597. PMC PMC1377307. (Noiz kontsultatua: 2024-01-18).
9. Jackson, Andrew P.; McHale, Duncan P.; Campbell, David A.; Jafri, Hussain; Rashid, Yasmin; Mannan, Jovaria; Karbani, Gulshan; Corry, Peter et al.. (1998-08). «Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter» The American Journal of Human Genetics 63 (2): 541–546.  doi:10.1086/301966. ISSN 0002-9297. PMID 9683597. PMC PMC1377307. (Noiz kontsultatua: 2024-01-18).
10. (Ingelesez) Wang, Yin-qiu; Su, Bing. (2004-06-01). «Molecular evolution of microcephalin, a gene determining human brain size» Human Molecular Genetics 13 (11): 1131–1137.  doi:10.1093/hmg/ddh127. ISSN 1460-2083. (Noiz kontsultatua: 2024-01-18).
11. academic.oup.com  doi:10.1093/hmg/ddh126. (Noiz kontsultatua: 2024-01-18).
12. academic.oup.com  doi:10.1093/hmg/ddl126. (Noiz kontsultatua: 2024-01-18).
13. (Ingelesez) Rushton, J. Philippe; Vernon, Philip A; Bons, Trudy Ann. (2007-04-22). «No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism» Biology Letters 3 (2): 157–160.  doi:10.1098/rsbl.2006.0586. ISSN 1744-9561. PMID 17251122. PMC PMC2104484. (Noiz kontsultatua: 2024-01-18).

Kanpo estekak

• Datuak: Q6839328