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The mouse gene, ''Aspm'', is expressed in the primary sites of prenatal cerebral cortical [[neurogenesis]]. The difference between ''Aspm'' and ASPM is a single, large insertion coding for so-called [[IQ calmodulin-binding motif|IQ domains]].<ref name="pmid11911888">{{cite journal | vauthors = Bähler M, Rhoads A | title = Calmodulin signaling via the IQ motif | journal = FEBS Letters | volume = 513 | issue = 1 | pages = 107–13 | date = Feb 2002 | pmid = 11911888 | doi = 10.1016/S0014-5793(01)03239-2 }}</ref> Studies in mice also suggest a role of the expressed Aspm gene product in mitotic spindle regulation.<ref name="pmid16798874">{{cite journal | vauthors = Fish JL, Kosodo Y, Enard W, Pääbo S, Huttner WB | title = Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 103 | issue = 27 | pages = 10438–43 | date = Jul 2006 | pmid = 16798874 | pmc = 1502476 | doi = 10.1073/pnas.0604066103 | bibcode = 2006PNAS..10310438F }}</ref> The function is conserved, the ''C. elegans'' protein ASPM-1 was shown to be localized to spindle asters, where it regulates spindle organization and rotation by interacting with calmodulin, dynein and NuMA-related LIN-5.<ref name="van der Voet2009">{{cite journal | vauthors = van der Voet M, Berends CW, Perreault A, Nguyen-Ngoc T, Gönczy P, Vidal M, Boxem M, van den Heuvel S | display-authors = 6 | title = NuMA-related LIN-5, ASPM-1, calmodulin and dynein promote meiotic spindle rotation independently of cortical LIN-5/GPR/Galpha | journal = Nature Cell Biology | volume = 11 | issue = 3 | pages = 269–77 | date = Mar 2009 | pmid = 19219036 | doi = 10.1038/ncb1834 }}</ref>
The mouse gene, ''Aspm'', is expressed in the primary sites of prenatal cerebral cortical [[neurogenesis]]. The difference between ''Aspm'' and ASPM is a single, large insertion coding for so-called [[IQ calmodulin-binding motif|IQ domains]].<ref name="pmid11911888">{{cite journal | vauthors = Bähler M, Rhoads A | title = Calmodulin signaling via the IQ motif | journal = FEBS Letters | volume = 513 | issue = 1 | pages = 107–13 | date = Feb 2002 | pmid = 11911888 | doi = 10.1016/S0014-5793(01)03239-2 }}</ref> Studies in mice also suggest a role of the expressed Aspm gene product in mitotic spindle regulation.<ref name="pmid16798874">{{cite journal | vauthors = Fish JL, Kosodo Y, Enard W, Pääbo S, Huttner WB | title = Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 103 | issue = 27 | pages = 10438–43 | date = Jul 2006 | pmid = 16798874 | pmc = 1502476 | doi = 10.1073/pnas.0604066103 | bibcode = 2006PNAS..10310438F }}</ref> The function is conserved, the ''C. elegans'' protein ASPM-1 was shown to be localized to spindle asters, where it regulates spindle organization and rotation by interacting with calmodulin, dynein and NuMA-related LIN-5.<ref name="van der Voet2009">{{cite journal | vauthors = van der Voet M, Berends CW, Perreault A, Nguyen-Ngoc T, Gönczy P, Vidal M, Boxem M, van den Heuvel S | display-authors = 6 | title = NuMA-related LIN-5, ASPM-1, calmodulin and dynein promote meiotic spindle rotation independently of cortical LIN-5/GPR/Galpha | journal = Nature Cell Biology | volume = 11 | issue = 3 | pages = 269–77 | date = Mar 2009 | pmid = 19219036 | doi = 10.1038/ncb1834 }}</ref>

One mouse study looking at [[medulloblastoma]] growth in mice to study the ''Aspm'' gene, an [[ortholog]] to human ASPM, suggests that ''Aspm'' expression may drive postnatal [[Cerebellum|cerebellar]] [[neurogenesis]].<ref>{{Cite journal|last=Gershon|first=Timothy R.|last2=Shih|first2=Yen-Yu Ian|last3=Merrill|first3=Joseph R.|last4=Oyarzabal|first4=Esteban A.|last5=Veleta|first5=Katherine|last6=O'Neill|first6=Sean|last7=Lough|first7=Kendall J.|last8=Liu|first8=Hedi|last9=Stewart|first9=Alyssa|date=2015-11-15|title=Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice|url=http://dev.biologists.org/content/142/22/3921|journal=Development|language=en|volume=142|issue=22|pages=3921–3932|doi=10.1242/dev.124271|issn=0950-1991|pmid=26450969}}</ref> This process occurs late in [[Embryonic development|embryogenesis]] and immediately after birth over a time span of about 2 weeks in mice and 12 months in humans, and is regulated by the expression of the ''[[Sonic hedgehog|Shh]]'' gene.<ref>{{Cite web|url=https://www.sciencedirect.com/science/article/pii/B9780123809162000085?via=ihub|title=ScienceDirect|website=www.sciencedirect.com|access-date=2019-02-24}}</ref> In proliferating cerebellar granule neuron progenitors ([[Cerebellar granule cell#Development|CGNPs]]), Shh expression in mouse models showed four times the amount of ''Aspm'' expression than those deprived of Shh expression [[In vivo|in-vivo]]. This induction of ''Aspm'' and up-regulation during cerebellar [[neurogenesis]] was also seen in real-time [[Polymerase chain reaction|PCR]], where its expression was relatively high at the peak of neurogenesis and much lower at the end of neurogenesis. Additionally, the study indicates that ''Aspm'' is necessary for cerebellar neurogenesis. In the presence of ''Aspm'' [[Knockout|KO]] mutations and deletions, experimental mice models show decreased cerebellar volume under [[Magnetic resonance imaging|MRI]], compared to the controls.<ref>{{Cite journal|last=Gershon|first=Timothy R.|last2=Shih|first2=Yen-Yu Ian|last3=Merrill|first3=Joseph R.|last4=Oyarzabal|first4=Esteban A.|last5=Veleta|first5=Katherine|last6=O'Neill|first6=Sean|last7=Lough|first7=Kendall J.|last8=Liu|first8=Hedi|last9=Stewart|first9=Alyssa|date=2015-11-15|title=Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice|url=http://dev.biologists.org/content/142/22/3921|journal=Development|language=en|volume=142|issue=22|pages=3921–3932|doi=10.1242/dev.124271|issn=0950-1991|pmid=26450969}}</ref> In addition to mutated ''Aspm''’s effects on neurogenesis, these mutations may also play a role in neural [[Cellular differentiation|differentiation]]. When looking at adult brains in ''Aspm'' KO mice, there was a trend in overall size reduction, and variations in cortical thickness between mutant and [[wild type]] models. In the somatosensory cortex, KO mice had a significantly thicker layer I cortex, thinner layer VI cortex, and an overall decrease in cortical thickness in the [[cortical plate]]. Certain transcription factors expressions were also abnormal in the KO mice. For example, [[TBR1|Tbr1]] and [[SATB2|Satb2]] had an increased presence in the cortical sub-plate, the first of which is important for differentiation and neuronal migration, and the second of which is a regulator of [[Transcription (biology)|transcription]] and chromosomal remodeling.<ref>{{Cite web|url=https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S0387760413002969?returnurl=https://linkinghub.elsevier.com/retrieve/pii/S0387760413002969?showall=true&referrer=http://europepmc.org/abstract/med/24220505|title=ClinicalKey|website=www.clinicalkey.com|access-date=2019-02-24}}</ref>

While mouse studies have established the role of ''Aspm'' mutations in microcephaly, several have linked this mutation to other significant defects.<ref>{{Cite journal|last=Létard|first=Pascaline|last2=Drunat|first2=Séverine|last3=Vial|first3=Yoann|last4=Duerinckx|first4=Sarah|last5=Ernault|first5=Anais|last6=Amram|first6=Daniel|last7=Arpin|first7=Stéphanie|last8=Bertoli|first8=Marta|last9=Busa|first9=Tiffany|date=03 2018|title=Autosomal recessive primary microcephaly due to ASPM mutations: An update|url=https://www.ncbi.nlm.nih.gov/pubmed/29243349|journal=Human Mutation|volume=39|issue=3|pages=319–332|doi=10.1002/humu.23381|issn=1098-1004|pmid=29243349}}</ref> One study showed [[Nerve fibers|nerve fiber]] impairments in which the shape and form of cortex and [[white matter]] tissue was altered. This was shown postnatally comparing KO mice and controls, where both cell number and cortical thickness was decreased in KO mice. Using a [[cell staining]] methodology for histological analysis, the study also showed shorter distances between adjacent neurons in KO mice, indicating abnormalities in cell alignment in the absence of normal ''Aspm''.<ref>{{Cite web|url=https://www.sciencedirect.com/science/article/pii/S0306452217308849|title=ScienceDirect|website=www.sciencedirect.com|access-date=2019-02-24}}</ref>

Another significant impact of mutated ''Aspm'' is seen in [[Germline mutation|germline]] abnormalities within mouse models. Mutations in ''Aspm'' were shown to reduce fertility in both female and male mice, indicated by a decrease in the rate of pregnancy and consequently the number of offspring, as well as a decrease in female ovarian size, as well as male sperm count and testicular size. The focus on severe germline mutations (as opposed to only mild microcephaly) in these mouse models raises the question as to whether or not human ASPM selection may be more significantly linked to reproduction than brain size.<ref>{{Cite journal|last=Ponting|first=Chris P.|date=2006-05-01|title=A novel domain suggests a ciliary function for ASPM, a brain size determining gene|url=https://academic.oup.com/bioinformatics/article/22/9/1031/199830|journal=Bioinformatics|language=en|volume=22|issue=9|pages=1031–1035|doi=10.1093/bioinformatics/btl022|issn=1367-4803}}</ref><ref name=":0">{{Cite journal|last=Huttner|first=Wieland B.|last2=Pääbo|first2=Svante|last3=Enard|first3=Wolfgang|last4=Tóth|first4=Attila|last5=Nitsch|first5=Robert|last6=Vogt|first6=Johannes|last7=Habermann|first7=Bianca|last8=Helppi|first8=Jussi|last9=Naumann|first9=Ronald|date=2010-09-21|title=Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline|url=https://www.pnas.org/content/107/38/16595|journal=Proceedings of the National Academy of Sciences|language=en|volume=107|issue=38|pages=16595–16600|doi=10.1073/pnas.1010494107|issn=0027-8424|pmid=20823249}}</ref>

In addition to mouse models, a study using ferrets reveals more about ASPM and its role in determining cortical size and thickness. The researchers from this study chose ferrets over mouse models due to incongruencies between ''Aspm'' effects in mice versus ASPM effects in humans - humans with microcephaly due to this gene mutation tend to have significantly reduced brain sizes (about 50% reduction), whereas the analogous mutation in mice only results in mild brain size reduction.<ref name=":0" /> Ferrets also show more similarities to humans in terms of brain structure; ferrets' brains have [[gyrification]] in high amounts similar to humans, different from the relatively smooth brains of mice. As a result, there is less cortical surface area in mice compared to that of ferrets and humans.<ref>{{Cite journal|last=Bae|first=Byoung-Il|last2=Walsh|first2=Christopher A.|last3=Engelhardt|first3=John F.|last4=Kwak|first4=Hojoong|last5=Im|first5=Kiho|last6=Grant|first6=P. Ellen|last7=Mandeville|first7=Joseph B.|last8=Hyder|first8=Fahmeed|last9=Staib|first9=Lawrence H.|date=2018-04|title=Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size|url=https://www.nature.com/articles/s41586-018-0035-0|journal=Nature|language=en|volume=556|issue=7701|pages=370–375|doi=10.1038/s41586-018-0035-0|issn=1476-4687}}</ref> In this 2018 study, researchers targeted ''Aspm'' exon 15, where a mutation in humans is linked to severe cases of microcephaly.<ref>{{Cite journal|last=Bond|first=Jacquelyn|last2=Scott|first2=Sheila|last3=Hampshire|first3=Daniel J.|last4=Springell|first4=Kelly|last5=Corry|first5=Peter|last6=Abramowicz|first6=Marc J.|last7=Mochida|first7=Ganesh H.|last8=Hennekam|first8=Raoul C. M.|last9=Maher|first9=Eamonn R.|date=2003-11|title=Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180496/|journal=American Journal of Human Genetics|volume=73|issue=5|pages=1170–1177|issn=0002-9297|pmc=PMC1180496|pmid=14574646}}</ref> With a loss of function in ''Aspm'', ferrets with ''Aspm'' mutations saw a 40% decrease in overall brain size coupled with no reduction in body size, similar to the effects of loss of ASPM in humans. The study also looked at the neurodevelopmental pathways and mechanisms leading to neurogenesis in the KO ferrets compared to the WT controls, specifically studying three different neuron progenitor cell ([[Progenitor cell|NPC]]) types, all of which express the mitotic marker [[Ki-67 (protein)|Ki-67]] and undergo [[Radial glial cell|radial glial]] migration to the cortical plate.<ref>{{Cite journal|last=Huttner|first=Wieland B.|last2=Nitsch|first2=Robert|last3=Distler|first3=Wolfgang|last4=Riehn|first4=Axel|last5=Corbeil|first5=Denis|last6=Fish|first6=Jennifer L.|last7=Stenzel|first7=Denise|last8=Wilsch-Bräuninger|first8=Michaela|last9=Vogt|first9=Johannes|date=2010-06|title=OSVZ progenitors of human and ferret neocortex are epithelial-like and expand by integrin signaling|url=https://www.nature.com/articles/nn.2553|journal=Nature Neuroscience|language=en|volume=13|issue=6|pages=690–699|doi=10.1038/nn.2553|issn=1546-1726}}</ref><ref>{{Cite journal|last=Noctor|first=Stephen C.|last2=Walker|first2=Anita I.|last3=Cziep|first3=Matthew E.|last4=Prakash|first4=Anish N.|last5=Antczak|first5=Jared L.|last6=Camacho|first6=Jasmin|last7=Cunningham|first7=Christopher L.|last8=Martínez-Cerdeño|first8=Verónica|date=2012-01-17|title=Comparative Analysis of the Subventricular Zone in Rat, Ferret and Macaque: Evidence for an Outer Subventricular Zone in Rodents|url=https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0030178|journal=PLOS ONE|language=en|volume=7|issue=1|pages=e30178|doi=10.1371/journal.pone.0030178|issn=1932-6203|pmc=PMC3260244|pmid=22272298}}</ref><ref>{{Cite journal|last=Kriegstein|first=Arnold R.|last2=Philip R. L. Parker|last3=Lui|first3=Jan H.|last4=Hansen|first4=David V.|date=2010-03|title=Neurogenic radial glia in the outer subventricular zone of human neocortex|url=https://www.nature.com/articles/nature08845|journal=Nature|language=en|volume=464|issue=7288|pages=554–561|doi=10.1038/nature08845|issn=1476-4687}}</ref> They found that outer subventricular zone ([[Subventricular zone|OSVZ]]) NPCs were largely displaced, especially frontally and dorsally which mirrors the effects seen in cortical volume reductions due to ASPM KO.


== Evolution ==
== Evolution ==

Revision as of 16:35, 5 April 2019

ASPM
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesASPM, ASP, Calmbp1, MCPH5, abnormal spindle microtubule assembly, assembly factor for spindle microtubules
External IDsOMIM: 605481 MGI: 1334448 HomoloGene: 7650 GeneCards: ASPM
Orthologs
SpeciesHumanMouse
Entrez

259266

12316

Ensembl

ENSG00000066279

ENSMUSG00000033952

UniProt

Q8IZT6

Q8CJ27

RefSeq (mRNA)

NM_018136
NM_001206846

NM_009791

RefSeq (protein)

NP_001193775
NP_060606

NP_033921

Location (UCSC)Chr 1: 197.08 – 197.15 MbChr 1: 139.38 – 139.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Abnormal spindle-like microcephaly-associated protein also known as abnormal spindle protein homolog or Asp homolog is a protein that in humans is encoded by the ASPM gene.[5] ASPM is located on chromosome 1, band q31 (1q31).[6] Defective forms of the ASPM gene are associated with autosomal recessive primary microcephaly.[5][7]

"ASPM" is an acronym for "Abnormal Spindle-like, Microcephaly-associated", which reflects its being an ortholog to the Drosophila melanogaster "abnormal spindle" (asp) gene. The expressed protein product of the asp gene is essential for normal mitotic spindle function in embryonic neuroblasts and regulation of neurogenesis.[6][8]

A new allele of ASPM arose sometime in the past 14,000 years (mean estimate 5,800 years), during the Holocene, it seems to have swept through much of the European and Middle-Eastern population. Although the new allele is evidently beneficial, researchers do not know what it does.

Animal studies

The mouse gene, Aspm, is expressed in the primary sites of prenatal cerebral cortical neurogenesis. The difference between Aspm and ASPM is a single, large insertion coding for so-called IQ domains.[9] Studies in mice also suggest a role of the expressed Aspm gene product in mitotic spindle regulation.[10] The function is conserved, the C. elegans protein ASPM-1 was shown to be localized to spindle asters, where it regulates spindle organization and rotation by interacting with calmodulin, dynein and NuMA-related LIN-5.[11]

One mouse study looking at medulloblastoma growth in mice to study the Aspm gene, an ortholog to human ASPM, suggests that Aspm expression may drive postnatal cerebellar neurogenesis.[12] This process occurs late in embryogenesis and immediately after birth over a time span of about 2 weeks in mice and 12 months in humans, and is regulated by the expression of the Shh gene.[13] In proliferating cerebellar granule neuron progenitors (CGNPs), Shh expression in mouse models showed four times the amount of Aspm expression than those deprived of Shh expression in-vivo. This induction of Aspm and up-regulation during cerebellar neurogenesis was also seen in real-time PCR, where its expression was relatively high at the peak of neurogenesis and much lower at the end of neurogenesis. Additionally, the study indicates that Aspm is necessary for cerebellar neurogenesis. In the presence of Aspm KO mutations and deletions, experimental mice models show decreased cerebellar volume under MRI, compared to the controls.[14] In addition to mutated Aspm’s effects on neurogenesis, these mutations may also play a role in neural differentiation. When looking at adult brains in Aspm KO mice, there was a trend in overall size reduction, and variations in cortical thickness between mutant and wild type models. In the somatosensory cortex, KO mice had a significantly thicker layer I cortex, thinner layer VI cortex, and an overall decrease in cortical thickness in the cortical plate. Certain transcription factors expressions were also abnormal in the KO mice. For example, Tbr1 and Satb2 had an increased presence in the cortical sub-plate, the first of which is important for differentiation and neuronal migration, and the second of which is a regulator of transcription and chromosomal remodeling.[15]

While mouse studies have established the role of Aspm mutations in microcephaly, several have linked this mutation to other significant defects.[16] One study showed nerve fiber impairments in which the shape and form of cortex and white matter tissue was altered. This was shown postnatally comparing KO mice and controls, where both cell number and cortical thickness was decreased in KO mice. Using a cell staining methodology for histological analysis, the study also showed shorter distances between adjacent neurons in KO mice, indicating abnormalities in cell alignment in the absence of normal Aspm.[17]

Another significant impact of mutated Aspm is seen in germline abnormalities within mouse models. Mutations in Aspm were shown to reduce fertility in both female and male mice, indicated by a decrease in the rate of pregnancy and consequently the number of offspring, as well as a decrease in female ovarian size, as well as male sperm count and testicular size. The focus on severe germline mutations (as opposed to only mild microcephaly) in these mouse models raises the question as to whether or not human ASPM selection may be more significantly linked to reproduction than brain size.[18][19]

In addition to mouse models, a study using ferrets reveals more about ASPM and its role in determining cortical size and thickness. The researchers from this study chose ferrets over mouse models due to incongruencies between Aspm effects in mice versus ASPM effects in humans - humans with microcephaly due to this gene mutation tend to have significantly reduced brain sizes (about 50% reduction), whereas the analogous mutation in mice only results in mild brain size reduction.[19] Ferrets also show more similarities to humans in terms of brain structure; ferrets' brains have gyrification in high amounts similar to humans, different from the relatively smooth brains of mice. As a result, there is less cortical surface area in mice compared to that of ferrets and humans.[20] In this 2018 study, researchers targeted Aspm exon 15, where a mutation in humans is linked to severe cases of microcephaly.[21] With a loss of function in Aspm, ferrets with Aspm mutations saw a 40% decrease in overall brain size coupled with no reduction in body size, similar to the effects of loss of ASPM in humans. The study also looked at the neurodevelopmental pathways and mechanisms leading to neurogenesis in the KO ferrets compared to the WT controls, specifically studying three different neuron progenitor cell (NPC) types, all of which express the mitotic marker Ki-67 and undergo radial glial migration to the cortical plate.[22][23][24] They found that outer subventricular zone (OSVZ) NPCs were largely displaced, especially frontally and dorsally which mirrors the effects seen in cortical volume reductions due to ASPM KO.

Evolution

A new allele (version) of ASPM appeared sometime within the last 14,100 years, with a mean estimate of 5,800 years ago. The new allele has a frequency of about 50% in populations of the Middle East and Europe, it is less frequent in East Asia, and has low frequencies among Sub-Saharan African populations.[25] It is also found with an unusually high percentage among the people of Papua New Guinea, with a 59.4% occurrence.[26]

The mean estimated age of the ASPM allele of 5,800 years ago, roughly correlates with the development of written language, spread of agriculture and development of cities.[27] Currently, two alleles of this gene exist: the older (pre-5,800 years ago) and the newer (post-5,800 years ago). About 10% of humans have two copies of the new ASPM allele, while about 50% have two copies of the old allele. The other 40% of humans have one copy of each. Of those with an instance of the new allele, 50% of them are an identical copy.[28] The allele affects genotype over a large (62 kbp) region, a so called selective sweep which signals a rapid spread of a mutation (such as the new ASPM) through the population; this indicates that the mutation is somehow advantageous to the individual.[26][29]

Testing the IQ of those with and without new ASPM allele has shown no difference in average IQ, providing no evidence to support the notion that the gene increases intelligence.[29][30][31] However statistical analysis has shown that the older forms of the gene are found more heavily in populations that speak tonal languages like Chinese or many Sub-Saharan African languages.[32]

Other genes related to brain development appear to have come under selective pressure in different populations. The DAB1 gene, involved in organizing cell layers in the cerebral cortex, shows evidence of a selective sweep in the Chinese. The SV2B gene, which encodes a synaptic vesicle protein, likewise shows evidence of a selective sweep in African-Americans.[33][34]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000066279 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033952 – Ensembl, May 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. ^ a b Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, et al. (Dec 2000). "A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31". American Journal of Human Genetics. 67 (6): 1578–80. doi:10.1086/316910. PMC 1287934. PMID 11078481.
  6. ^ a b Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, et al. (Oct 2002). "ASPM is a major determinant of cerebral cortical size". Nature Genetics. 32 (2): 316–20. doi:10.1038/ng995. PMID 12355089.
  7. ^ Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, et al. (2010). "Many roads lead to primary autosomal recessive microcephaly". Progress in Neurobiology. 90 (3): 363–83. doi:10.1016/j.pneurobio.2009.11.002. PMID 19931588.
  8. ^ Kouprina N, Pavlicek A, Collins NK, Nakano M, Noskov VN, Ohzeki J, et al. (2005). "The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein". Human Molecular Genetics. 14 (15): 2155–65. doi:10.1093/hmg/ddi220. PMID 15972725.
  9. ^ Bähler M, Rhoads A (Feb 2002). "Calmodulin signaling via the IQ motif". FEBS Letters. 513 (1): 107–13. doi:10.1016/S0014-5793(01)03239-2. PMID 11911888.
  10. ^ Fish JL, Kosodo Y, Enard W, Pääbo S, Huttner WB (Jul 2006). "Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells". Proceedings of the National Academy of Sciences of the United States of America. 103 (27): 10438–43. Bibcode:2006PNAS..10310438F. doi:10.1073/pnas.0604066103. PMC 1502476. PMID 16798874.
  11. ^ van der Voet M, Berends CW, Perreault A, Nguyen-Ngoc T, Gönczy P, Vidal M, et al. (Mar 2009). "NuMA-related LIN-5, ASPM-1, calmodulin and dynein promote meiotic spindle rotation independently of cortical LIN-5/GPR/Galpha". Nature Cell Biology. 11 (3): 269–77. doi:10.1038/ncb1834. PMID 19219036.
  12. ^ Gershon, Timothy R.; Shih, Yen-Yu Ian; Merrill, Joseph R.; Oyarzabal, Esteban A.; Veleta, Katherine; O'Neill, Sean; Lough, Kendall J.; Liu, Hedi; Stewart, Alyssa (2015-11-15). "Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice". Development. 142 (22): 3921–3932. doi:10.1242/dev.124271. ISSN 0950-1991. PMID 26450969.
  13. ^ "ScienceDirect". www.sciencedirect.com. Retrieved 2019-02-24.
  14. ^ Gershon, Timothy R.; Shih, Yen-Yu Ian; Merrill, Joseph R.; Oyarzabal, Esteban A.; Veleta, Katherine; O'Neill, Sean; Lough, Kendall J.; Liu, Hedi; Stewart, Alyssa (2015-11-15). "Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice". Development. 142 (22): 3921–3932. doi:10.1242/dev.124271. ISSN 0950-1991. PMID 26450969.
  15. ^ "ClinicalKey". www.clinicalkey.com. Retrieved 2019-02-24.
  16. ^ Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany (03 2018). "Autosomal recessive primary microcephaly due to ASPM mutations: An update". Human Mutation. 39 (3): 319–332. doi:10.1002/humu.23381. ISSN 1098-1004. PMID 29243349. {{cite journal}}: Check date values in: |date= (help)
  17. ^ "ScienceDirect". www.sciencedirect.com. Retrieved 2019-02-24.
  18. ^ Ponting, Chris P. (2006-05-01). "A novel domain suggests a ciliary function for ASPM, a brain size determining gene". Bioinformatics. 22 (9): 1031–1035. doi:10.1093/bioinformatics/btl022. ISSN 1367-4803.
  19. ^ a b Huttner, Wieland B.; Pääbo, Svante; Enard, Wolfgang; Tóth, Attila; Nitsch, Robert; Vogt, Johannes; Habermann, Bianca; Helppi, Jussi; Naumann, Ronald (2010-09-21). "Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline". Proceedings of the National Academy of Sciences. 107 (38): 16595–16600. doi:10.1073/pnas.1010494107. ISSN 0027-8424. PMID 20823249.
  20. ^ Bae, Byoung-Il; Walsh, Christopher A.; Engelhardt, John F.; Kwak, Hojoong; Im, Kiho; Grant, P. Ellen; Mandeville, Joseph B.; Hyder, Fahmeed; Staib, Lawrence H. (2018-04). "Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size". Nature. 556 (7701): 370–375. doi:10.1038/s41586-018-0035-0. ISSN 1476-4687. {{cite journal}}: Check date values in: |date= (help)
  21. ^ Bond, Jacquelyn; Scott, Sheila; Hampshire, Daniel J.; Springell, Kelly; Corry, Peter; Abramowicz, Marc J.; Mochida, Ganesh H.; Hennekam, Raoul C. M.; Maher, Eamonn R. (2003-11). "Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size". American Journal of Human Genetics. 73 (5): 1170–1177. ISSN 0002-9297. PMC 1180496. PMID 14574646. {{cite journal}}: Check date values in: |date= (help)CS1 maint: PMC format (link)
  22. ^ Huttner, Wieland B.; Nitsch, Robert; Distler, Wolfgang; Riehn, Axel; Corbeil, Denis; Fish, Jennifer L.; Stenzel, Denise; Wilsch-Bräuninger, Michaela; Vogt, Johannes (2010-06). "OSVZ progenitors of human and ferret neocortex are epithelial-like and expand by integrin signaling". Nature Neuroscience. 13 (6): 690–699. doi:10.1038/nn.2553. ISSN 1546-1726. {{cite journal}}: Check date values in: |date= (help)
  23. ^ Noctor, Stephen C.; Walker, Anita I.; Cziep, Matthew E.; Prakash, Anish N.; Antczak, Jared L.; Camacho, Jasmin; Cunningham, Christopher L.; Martínez-Cerdeño, Verónica (2012-01-17). "Comparative Analysis of the Subventricular Zone in Rat, Ferret and Macaque: Evidence for an Outer Subventricular Zone in Rodents". PLOS ONE. 7 (1): e30178. doi:10.1371/journal.pone.0030178. ISSN 1932-6203. PMC 3260244. PMID 22272298.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
  24. ^ Kriegstein, Arnold R.; Philip R. L. Parker; Lui, Jan H.; Hansen, David V. (2010-03). "Neurogenic radial glia in the outer subventricular zone of human neocortex". Nature. 464 (7288): 554–561. doi:10.1038/nature08845. ISSN 1476-4687. {{cite journal}}: Check date values in: |date= (help)
  25. ^ Evans PD, Gilbert SL, Mekel-Bobrov N, Vallender EJ, Anderson JR, Vaez-Azizi LM, et al. (Sep 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. {{cite journal}}: Unknown parameter |laysource= ignored (help); Unknown parameter |laysummary= ignored (help)
  26. ^ a b Mekel-Bobrov N, Gilbert SL, Evans PD, Vallender EJ, Anderson JR, Hudson RR, et al. (Sep 2005). "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens". Science. 309 (5741): 1720–2. Bibcode:2005Sci...309.1720M. doi:10.1126/science.1116815. PMID 16151010.
  27. ^ Per the 2006 Discovery Channel/Channel 4 documentary series What Makes Us Human?
  28. ^ Inman M (2005). "Human brains enjoy ongoing evolution". New Scientist.
    Evans PD, Gilbert SL, Mekel-Bobrov N, Vallender EJ, Anderson JR, Vaez-Azizi LM, et al. (Sep 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.
  29. ^ a b Currat M, Excoffier L, Maddison W, Otto SP, Ray N, Whitlock MC, et al. (Jul 2006). "Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens" and "Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans"". Science. 313 (5784): 172, author reply 172. doi:10.1126/science.1122712. PMID 16840683.
  30. ^ Woods RP, Freimer NB, De Young JA, Fears SC, Sicotte NL, Service SK, et al. (Jun 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.
  31. ^ Mekel-Bobrov N, Posthuma D, Gilbert SL, Lind P, Gosso MF, Luciano M, et al. (Mar 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.
  32. ^ Dediu D, Ladd DR (Jun 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. PMC 1904158. PMID 17537923. {{cite journal}}: Unknown parameter |laysource= ignored (help); Unknown parameter |laysummary= ignored (help)
  33. ^ Williamson SH, Hubisz MJ, Clark AG, Payseur BA, Bustamante CD, Nielsen R (2007). "Localizing recent adaptive evolution in the human genome". PLoS Genetics. 3 (6): e90. doi:10.1371/journal.pgen.0030090. PMC 1885279. PMID 17542651.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  34. ^ Wade N (2007-06-26). "Humans Have Spread Globally, and Evolved Locally". New York Times. Retrieved 2009-08-01.

External links

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