MCPH1

Mikrocefalinski protein
Mikrocefalinski protein
Identifikatori
Simbol	Mikrocefalin

MCPH4
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3T1N, 3SHT, 2WT8, 3SHV, 3U3Z, 3KTF, 3PA6, 3SZM
Identifikatori
Aliasi	MCPH1
Vanjski ID-jevi	OMIM: 607117 MGI: 2443308 HomoloGene: 32586 GeneCards: MCPH1
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	6,648,508 bp
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	18,853,205 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje identičnih proteina;
Ćelijska komponenta	• citoplazma; • citoskelet; • nukleoplazma; • centar organizacije mikrotubula;
Biološki proces	• cerebral cortex development; • establishment of mitotic spindle orientation; • Regulacija ekspresije gena; • 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; • GO:1901227 negative regulation of transcription by RNA polymerase II;
	Izvori:Amigo / QuickGO
Ortolozi
	79648
	244329
	ENSG00000147316; ENSG00000285262
	ENSMUSG00000039842
	Q8NEM0
	Q7TT79
NM_001172574; NM_001172575; NM_024596; NM_001322042; NM_001322043;
	NM_001322045; NM_001363979; NM_001363980
	NM_173189
NP_001166045; NP_001166046; NP_001308971; NP_001308972; NP_001308974;
	NP_078872; NP_001350908; NP_001350909
	NP_775281
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Mikrocefalin (MCPH1) je gen koji se eksprimira tokom fetusnog razvoja mozga. Određene mutacije u MCPH1 u homozigotnom stanju, uzrokuju primarnu mikrocefaliju – jako smanjeni mozak.^[5] Zato se pretpostavlja da njegove varijante imaju ulogu u razvoju mozga. Međutim, kod normalnih osoba još nije dokazan uticaj na mentalnu sposobnost ili ponašanje ni u ovom ni u drugom slično proučenom genu mikrocefalije, ASPM.^[6]^[7] Međutim, uspostavljena je povezanost između normalnih varijacija u strukturi mozga, kao mjereno s MRI (tj., prvenstveno korteksna površina i ukupna zapremina mozga), ali samo kod žena, i uobičajenih genetičkih varijanti unutar gena MCPH1 i drugog slično proučenog gena za mikrocefaliju, CDK5RAP2.^[8]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 835 aminokiselina, a molekulska težina 92.849 Da.^[9]

10	20	30	40	50
MAAPILKDVV	AYVEVWSSNG	TENYSKTFTT	QLVDMGAKVS	KTFNKQVTHV
IFKDGYQSTW	DKAQKRGVKL	VSVLWVEKCR	TAGAHIDESL	FPAANMNEHL
SSLIKKKRKC	MQPKDFNFKT	PENDKRFQKK	FEKMAKELQR	QKTNLDDDVP
ILLFESNGSL	IYTPTIEINS	RHHSAMEKRL	QEMKEKRENL	SPTSSQMIQQ
SHDNPSNSLC	EAPLNISRDT	LCSDEYFAGG	LHSSFDDLCG	NSGCGNQERK
LEGSINDIKS	DVCISSLVLK	ANNIHSSPSF	THLDKSSPQK	FLSNLSKEEI
NLQRNIAGKV	VTPDQKQAAG	MSQETFEEKY	RLSPTLSSTK	GHLLIHSRPR
SSSVKRKRVS	HGSHSPPKEK	CKRKRSTRRS	IMPRLQLCRS	EDRLQHVAGP
ALEALSCGES	SYDDYFSPDN	LKERYSENLP	PESQLPSSPA	QLSCRSLSKK
ERTSIFEMSD	FSCVGKKTRT	VDITNFTAKT	ISSPRKTGNG	EGRATSSCVT
SAPEEALRCC	RQAGKEDACP	EGNGFSYTIE	DPALPKGHDD	DLTPLEGSLE
EMKEAVGLKS	TQNKGTTSKI	SNSSEGEAQS	EHEPCFIVDC	NMETSTEEKE
NLPGGYSGSV	KNRPTRHDVL	DDSCDGFKDL	IKPHEELKKS	GRGKKPTRTL
VMTSMPSEKQ	NVVIQVVDKL	KGFSIAPDVC	ETTTHVLSGK	PLRTLNVLLG
IARGCWVLSY	DWVLWSLELG	HWISEEPFEL	SHHFPAAPLC	RSECHLSAGP
YRGTLFADQP	AMFVSPASSP	PVAKLCELVH	LCGGRVSQVP	RQASIVIGPY
SGKKKATVKY	LSEKWVLDSI	TQHKVCAPEN	YLLSQ

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

Struktura

Proteini mikrocefalina sadrže sljedeća tri domena:

N-terminalni BRCT-domen
Centralni domen mikrocefalinskog proteina (IPR022047)
C-terminalni BRCT-domen

Izražavanje u mozgu

MCPH1 se eksprimira u fetusnom mozgu, u prednjem mozgu u razvoju i na zidovima bočne komore. Ćelije ovog područja dijele se, stvarajući neurone koji migriraju da bi na kraju formirali koru velikog mozga.

Evolucija

Izvedeni oblik MCPH1 pojavio se prije otprilike 37.000 godina (bilo kada između 14.000 i 60.000 godina) i proširio se i postao najčešći oblik mikrocefalina u cijelom svijetu, osim Subsaharske Afrike; ovo brzo širenje sugerira selekcijski zamah.^[10]^[11] Međutim, naučnici nisu identificirali evolucijski pritisak koji je možda uzrokovao širenje ovih mutacija.^[12] Smatra se da ova varijanta gena doprinosi povećanom volumenu mozga,^[13] i može biti u korelaciji sa učestalošću tonskih jezika,^[14] iako moderna raspodjela hromosoma koji nose predačke forme MCPH1 i ASPM nije pokazala da mikrocefalin ili ASPM imaju bilo kakav značajan efekat na IQ.^[15]

Izvedeni oblik MCPH1 možda potiče iz loze koja je odvojena od modernih ljudi prije otprilike 1,1 milion godina, a kasnije ukljućena u ljude. Ovo otkriće govori u prilog mogućnosti primjesa između modernih ljudi i izumrlog Homo spp.^[11] Dok su neandertalci predložen kao mogući izvor ovog haplotipa, haplotip nije pronađen kod osoba korištenih za pripremu prvog nacrta neandertalskog genoma.^[16]^[17]

Modelni organizmi

Fenotip nokaut-miša *Pnpo*
Svojstvo	Fenotip
Vijabilnost homozigota	Nenormalno
Studija recesivne letalnosti	Nenormalno
Plodnost	Nenormano
Tjelesna težina	Normalno
Test otvorenog polja: anksioznost	Normalno
Neurološka procjena	Normalno
Snaga stiska	Normalno
Test vruće ploče	Normalno
Dismorfologija	Normalno
Indirektna kalorimetrija	Normalno
Test tolerancije glukoze	Normalno
Slušni odgovor moždanog stabla	Nenormalno
DEXA	Normalno
Radiografija	Normalno
Tjelesna temperatura	Normalno
Morfologija oka	Normalno
Klinička hemija (nalaz)	Normalno
Plazmatski imunoglobulini	Nenormalno
Hematologija	Normalno
Leukociti periferne krvi	Normalno
Mikronukleus test	Nenormalno
Težina srca	Normalno
Histopatologija oka	Nenormalno
Salmonella infekcija	Normal^[18]
Citrobacter infekcija	Normal^[19]
Svi testovi i analize su iz ^[20]^[21]

U proučavanju PNPO funkcije, korišteni su modelni organizmi. Uvjetna linija nokaut- miševa, zvana Pnpo^{tm1a (KOMP) Wtsi},^[22]^[23] generirana je kao dio programa Međunarosnog konzorcija za miševe – visokopropusnog projekta mutageneze za generiranje i distribuciju životinjskih modela bolesti zainteresiranim naučnicima.^[24]^[25]^[26]

Muške i ženske životinje prolazile su standardizirani fenotipski skrining, kako bi se utvrdili efekti delecije.^[20]^[27] Od 24 izvedena testa ina mutantnim miševima, uočene su dvije značajne abnormalnosti.^[20] Tokom gestacije, nije utvrđen homozigotni mutantni embrion, pa tako nijedan nije preživio do odvikavanja. Preostali testovi su izvedeni na mutiranim heterozigotnim odraslim miševima; nisu opažene nikakve dodatne značajne abnormalnosti kod ovih životinja.^[20]

Ostali MCPH geni

Pored MCPH1, drugi geni su određeni kao MCPH geni na osnovu njihove uloge u osdređivanju veličine mozga. Uključuju WDR62 (MCPH2), CDK5RAP2 (MCPH3), KNL1 (MCPH4), ASPM (MCPH5), CENPJ (MCPH6), STIL (MCPH7), CEP135 (MCPH8), CEP152 (MCPH9), ZNF335 (MCPH10), PHC1 (MCPH11) i CDK6 (MCPH12).^[28]

Istraživačke studije

U martu 2019., kineski naučnici izvijestili su o inserciji gena MCPH1 povezanog s ljudskim mozgom rezus-majmunima u laboratorijskim uvjetima, što je rezultiralo boljim performansama transgenih majmuna i bržim odgovaranjem na "testovima kratkoročne memorije koji uključuju podudaranje boja i oblika", u poređenju sa netransgenim majmunima, prema istraživačima.^[29]^[30]

Također pogledajta

Reference

^ ^a ^b ^c ENSG00000285262 GRCh38: Ensembl release 89: ENSG00000147316, ENSG00000285262 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039842 - 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.
^ OMIM: 251200 251200
^ Woods RP, Freimer NB, De Young JA, Fears SC, Sicotte NL, Service SK, Valentino DJ, Toga AW, Mazziotta JC (juni 2006). "Normal variants of Microcephalin and ASPM do not account for brain size variability". Human Molecular Genetics. 15 (12): 2025–9. doi:10.1093/hmg/ddl126. PMID 16687438.
^ Rushton JP, Vernon PA, Bons TA (april 2007). "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): 157–60. doi:10.1098/rsbl.2006.0586. PMC 2104484. PMID 17251122.
^ Rimol LM, Agartz I, Djurovic S, Brown AA, Roddey JC, Kähler AK, Mattingsdal M, Athanasiu L, Joyner AH, Schork NJ, Halgren E, Sundet K, Melle I, Dale AM, Andreassen OA (januar 2010). "Sex-dependent association of common variants of microcephaly genes with brain structure". Proceedings of the National Academy of Sciences of the United States of America. 107 (1): 384–8. Bibcode:2010PNAS..107..384R. doi:10.1073/pnas.0908454107. JSTOR 40536283. PMC 2806758. PMID 20080800.
^ "UniProt, Q8NEM0". Pristupljeno 16. 7. 2021.
^ Evans PD, Gilbert SL, Mekel-Bobrov N, Vallender EJ, Anderson JR, Vaez-Azizi LM, Tishkoff SA, Hudson RR, Lahn BT (septembar 2005). "Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans". Science. 309 (5741): 1717–20. Bibcode:2005Sci...309.1717E. doi:10.1126/science.1113722. PMID 16151009. S2CID 85864492. Sažetak – The New York Times (8. 9. 2005).
^ ^a ^b Evans PD, Mekel-Bobrov N, Vallender EJ, Hudson RR, Lahn BT (novembar 2006). "Evidence that the adaptive allele of the brain size gene microcephalin introgressed into Homo sapiens from an archaic Homo lineage". Proceedings of the National Academy of Sciences of the United States of America. 103 (48): 18178–83. Bibcode:2006PNAS..10318178E. doi:10.1073/pnas.0606966103. JSTOR 30051829. PMC 1635020. PMID 17090677.
^ Mekel-Bobrov N, Posthuma D, Gilbert SL, Lind P, Gosso MF, Luciano M, et al. (mart 2007). "The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence". Human Molecular Genetics. 16 (6): 600–8. doi:10.1093/hmg/ddl487. PMID 17220170.
^ Lari M, Rizzi E, Milani L, Corti G, Balsamo C, Vai S, Catalano G, Pilli E, Longo L, Condemi S, Giunti P, Hänni C, De Bellis G, Orlando L, Barbujani G, Caramelli D (maj 2010). "The microcephalin ancestral allele in a Neanderthal individual". PLOS ONE. 5 (5): e10648. Bibcode:2010PLoSO...510648L. doi:10.1371/journal.pone.0010648. PMC 2871044. PMID 20498832.
^ Dediu D, Ladd DR (juni 2007). "Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin". Proceedings of the National Academy of Sciences of the United States of America. 104 (26): 10944–9. Bibcode:2007PNAS..10410944D. doi:10.1073/pnas.0610848104. JSTOR 25436044. PMC 1904158. PMID 17537923.
^ Mekel-Bobrov N, Posthuma D, Gilbert SL, Lind P, Gosso MF, Luciano M, et al. (mart 2007). "The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence". Human Molecular Genetics. 16 (6): 600–8. doi:10.1093/hmg/ddl487. PMID 17220170.
^ Pennisi E (februar 2009). "Neandertal genomics. Tales of a prehistoric human genome". Science. 323 (5916): 866–71. doi:10.1126/science.323.5916.866. PMID 19213888. S2CID 206584252.
^ Green RE, Krause J, Briggs AW, Maricic T, Stenzel U, Kircher M, et al. (maj 2010). "A draft sequence of the Neandertal genome". Science. 328 (5979): 710–722. Bibcode:2010Sci...328..710G. doi:10.1126/science.1188021. PMC 5100745. PMID 20448178.
^ "Salmonella infection data for Pnpo". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Pnpo". 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". Arhivirano s originala, 3. 4. 2012. Pristupljeno 16. 7. 2021.
^ "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.
^ Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, et al. (15. 1. 2015). "Molecular genetics of human primary microcephaly: an overview". BMC Medical Genomics. 8 Suppl 1 (Suppl 1): S4. doi:10.1186/1755-8794-8-S1-S4. PMC 4315316. PMID 25951892.
^ Burrell T (29. 12. 2019). "Scientists Put a Human Intelligence Gene Into a Monkey. Other Scientists are Concerned". Discover. Pristupljeno 30. 12. 2019.
^ Shi, Lei; et al. (27. 3. 2019). "Transgenic rhesus monkeys carrying the human MCPH1 gene copies show human-like neoteny of brain development". Chinese National Science Review. 6 (3): 480–493. doi:10.1093/nsr/nwz043.

Dopunska literatura

Xu X, Lee J, Stern DF (august 2004). "Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1". The Journal of Biological Chemistry. 279 (33): 34091–4. doi:10.1074/jbc.C400139200. PMID 15220350.
Wang YQ, Su B (juni 2004). "Molecular evolution of microcephalin, a gene determining human brain size". Human Molecular Genetics. 13 (11): 1131–7. doi:10.1093/hmg/ddh127. PMID 15056608.
Bates TC, Luciano M, Lind PA, Wright MJ, Montgomery GW, Martin NG (2008). "Recently-derived variants of brain-size genes ASPM, MCPH1, CDK5RAP and BRCA1 not associated with general cognition, reading or language". Intelligence. 36 (6): 689–93. doi:10.1016/j.intell.2008.04.001.
Passemard S, Kaindl AM, Titomanlio L, Gerard B, Gressens P, Verloes A (1993). "Primary Autosomal Recessive Microcephaly". u Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (ured.). GeneReviews. PMID 20301772.

Vanjski linkovi

Neanderthal Brains - a lecture by Bruce Lahn - from the NYAS podcasts.

[refGRCh38Ensembl-1] ENSG00000285262 GRCh38: Ensembl release 89: ENSG00000147316, ENSG00000285262 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039842 - 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.

[5] OMIM: 251200 251200

[AutoR3-5-6] Woods RP, Freimer NB, De Young JA, Fears SC, Sicotte NL, Service SK, Valentino DJ, Toga AW, Mazziotta JC (juni 2006). "Normal variants of Microcephalin and ASPM do not account for brain size variability". Human Molecular Genetics. 15 (12): 2025–9. doi:10.1093/hmg/ddl126. PMID 16687438.

[AutoR3-6-7] Rushton JP, Vernon PA, Bons TA (april 2007). "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): 157–60. doi:10.1098/rsbl.2006.0586. PMC 2104484. PMID 17251122.

[Rimol_2010-8] Rimol LM, Agartz I, Djurovic S, Brown AA, Roddey JC, Kähler AK, Mattingsdal M, Athanasiu L, Joyner AH, Schork NJ, Halgren E, Sundet K, Melle I, Dale AM, Andreassen OA (januar 2010). "Sex-dependent association of common variants of microcephaly genes with brain structure". Proceedings of the National Academy of Sciences of the United States of America. 107 (1): 384–8. Bibcode:2010PNAS..107..384R. doi:10.1073/pnas.0908454107. JSTOR 40536283. PMC 2806758. PMID 20080800.

[UniProt-9] "UniProt, Q8NEM0". Pristupljeno 16. 7. 2021.

[AutoR3-7-10] Evans PD, Gilbert SL, Mekel-Bobrov N, Vallender EJ, Anderson JR, Vaez-Azizi LM, Tishkoff SA, Hudson RR, Lahn BT (septembar 2005). "Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans". Science. 309 (5741): 1717–20. Bibcode:2005Sci...309.1717E. doi:10.1126/science.1113722. PMID 16151009. S2CID 85864492. Sažetak – The New York Times (8. 9. 2005).

[AutoR3-10-11] Evans PD, Mekel-Bobrov N, Vallender EJ, Hudson RR, Lahn BT (novembar 2006). "Evidence that the adaptive allele of the brain size gene microcephalin introgressed into Homo sapiens from an archaic Homo lineage". Proceedings of the National Academy of Sciences of the United States of America. 103 (48): 18178–83. Bibcode:2006PNAS..10318178E. doi:10.1073/pnas.0606966103. JSTOR 30051829. PMC 1635020. PMID 17090677.

[AutoR3-11-12] Mekel-Bobrov N, Posthuma D, Gilbert SL, Lind P, Gosso MF, Luciano M, et al. (mart 2007). "The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence". Human Molecular Genetics. 16 (6): 600–8. doi:10.1093/hmg/ddl487. PMID 17220170.

[13] Lari M, Rizzi E, Milani L, Corti G, Balsamo C, Vai S, Catalano G, Pilli E, Longo L, Condemi S, Giunti P, Hänni C, De Bellis G, Orlando L, Barbujani G, Caramelli D (maj 2010). "The microcephalin ancestral allele in a Neanderthal individual". PLOS ONE. 5 (5): e10648. Bibcode:2010PLoSO...510648L. doi:10.1371/journal.pone.0010648. PMC 2871044. PMID 20498832.

[AutoR3-9-14] Dediu D, Ladd DR (juni 2007). "Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin". Proceedings of the National Academy of Sciences of the United States of America. 104 (26): 10944–9. Bibcode:2007PNAS..10410944D. doi:10.1073/pnas.0610848104. JSTOR 25436044. PMC 1904158. PMID 17537923.

[15] Mekel-Bobrov N, Posthuma D, Gilbert SL, Lind P, Gosso MF, Luciano M, et al. (mart 2007). "The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence". Human Molecular Genetics. 16 (6): 600–8. doi:10.1093/hmg/ddl487. PMID 17220170.

[Human_genome_tales-16] Pennisi E (februar 2009). "Neandertal genomics. Tales of a prehistoric human genome". Science. 323 (5916): 866–71. doi:10.1126/science.323.5916.866. PMID 19213888. S2CID 206584252.

[green-17] Green RE, Krause J, Briggs AW, Maricic T, Stenzel U, Kircher M, et al. (maj 2010). "A draft sequence of the Neandertal genome". Science. 328 (5979): 710–722. Bibcode:2010Sci...328..710G. doi:10.1126/science.1188021. PMC 5100745. PMID 20448178.

[''Salmonella''_infection-18] "Salmonella infection data for Pnpo". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-19] "Citrobacter infection data for Pnpo". Wellcome Trust Sanger Institute.

[mgp_reference-20] 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.

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

[allele_ref-22] "International Knockout Mouse Consortium". Arhivirano s originala, 3. 4. 2012. Pristupljeno 16. 7. 2021.

[mgi_allele_ref-23] "Mouse Genome Informatics".

[pmid21677750-24] 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-25] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-26] 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.

[pmid21722353-27] 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.

[28] Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, et al. (15. 1. 2015). "Molecular genetics of human primary microcephaly: an overview". BMC Medical Genomics. 8 Suppl 1 (Suppl 1): S4. doi:10.1186/1755-8794-8-S1-S4. PMC 4315316. PMID 25951892.

[DSVR-20191229-29] Burrell T (29. 12. 2019). "Scientists Put a Human Intelligence Gene Into a Monkey. Other Scientists are Concerned". Discover. Pristupljeno 30. 12. 2019.

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