Yes
The most striking trend in human evolution is the rapid increase in brain size over the past 3–4 million years, and the associated increase in cognitive complexity (1). Recent advances in comparative genomics and population genetics have facilitated rapid progress in studying the genetic basis of human brain evolution. By searching for signatures of adaptive evolution in genes known to function in the mammalian brain, a large number of candidate loci have been identified (2). Microcephaly 5, primary, autosomal recessive (MCPH5). The disease is caused by mutations affecting the gene represented in this entry. Disease description A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded A number of recent reviews on the genetic basis of human evolution have called for the use of data from human disease, model organisms and in vitro systems to relate human-specific substitutions to the unique aspects of our anatomy and physiology (2, 3, 31, 32). Recent advances in comparative genomics and population genetics have facilitated rapid progress in studying the genetic basis of human brain evolution. By searching for signatures of adaptive evolution in genes known to function in the mammalian brain, a large number of candidate loci have been identified (2). Entrez Gene Summary for ASPM Gene. This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. ASPM (Asp (Abnormal Spindle) Homolog, Microcephaly Associated (Drosophila)) is a Protein Coding gene. Diseases associated with ASPM include microcephaly 5, primary, autosomal recessive and microcephaly. GO annotations related to this gene include calmodulin binding 1 The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. ASPM (Asp (Abnormal Spindle) Homolog, Microcephaly Associated (Drosophila)) is a Protein Coding gene. Diseases associated with ASPM include microcephaly 5, primary, autosomal recessive and microcephaly. GO annotations related to this gene include calmodulin binding To test the hypothesis that the recent selective sweep at ASPM and Microcephalin is due to increased intelligence, we genotyped the diagnostic sites that distinguish the adaptive derived allele (D-allele) from the ancestral allele (A-allele) of each gene. Recent advances in comparative genomics and population genetics have facilitated rapid progress in studying the genetic basis of human brain evolution. By searching for signatures of adaptive evolution in genes known to function in the mammalian brain, a large number of candidate loci have been identified (2). Similar to ASPM, however, these results were not replicated in other samples, and in the Dutch Adults sample, VIQ was significantly associated with the A-allele, rather than the D-allele, of Microcephalin in the family-based test of additive and dominant effects (P = 0.03). Recent advances in comparative genomics and population genetics have facilitated rapid progress in studying the genetic basis of human brain evolution. By searching for signatures of adaptive evolution in genes known to function in the mammalian brain, a large number of candidate loci have been identified (2).
http://hmg.oxfordjournals.org/content/16/6/600.full http://www.uniprot.org/uniprot/Q8IZT6 http://hmg.oxfordjournals.org/content/16/6/600.full http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM http://hmg.oxfordjournals.org/content/16/6/600.full http://hmg.oxfordjournals.org/content/16/6/600.full
is aspm human specific