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Microcephalin (MCPH1) is a gene that is expressed during fetal brain development. Certain mutations in MCPH1 , when homozygous , cause primary microcephaly —a severely diminished brain . [ 5 ] [ 6 ] [ 7 ] Hence, it has been assumed that variants have a role in brain development.
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] The ASPM gene contains 28 exons and codes for a 3477 amino-acid-long protein. [6]
Alternative splicing produces three protein isoforms.Protein A includes all of the exons, whereas Proteins B and C result from exon skipping.. Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to produce different splice variants.
ZEB2 is a protein- coding gene in the Homo sapien species. A 2021 study found that a delayed change in the shape of early brain cells causes the distinctly large human forebrain compared to other apes and identify ZEB2 as a genetic regulator of it, whose manipulation lead to acquisition of nonhuman ape cortical architecture in brain organoids .
Protein A, B and C are isoforms encoded from the same gene through alternative splicing. A protein isoform, or "protein variant", [1] is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. [2] While many perform the same or similar biological roles, some isoforms have unique ...
Tau proteins are found more often in neurons than in non-neuronal cells in humans. One of tau's main functions is to modulate the stability of axonal microtubules. [11] [13] Other nervous system microtubule-associated proteins (MAPs) may perform similar functions, as suggested by tau knockout mice that did not show abnormalities in brain development – possibly because of compensation in tau ...
To address these concerns, expressions systems using multiple eukaryotic cells were developed for applications requiring the proteins be conformed as in, or closer to eukaryotic organisms: cells of plants (i.e. tobacco), of insects or mammalians (i.e. bovines) are transfected with genes and cultured in suspension and even as tissues or whole ...
Forkhead box protein P2 (FOXP2) is a protein that, in humans, is encoded by the FOXP2 gene. FOXP2 is a member of the forkhead box family of transcription factors , proteins that regulate gene expression by binding to DNA .