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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]
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. It is expressed in the brain, heart, lungs and digestive system. [5] [6]
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 .
E. coli, one of the most popular hosts for artificial gene expression. E. coli is one of the most widely used expression hosts, and DNA is normally introduced in a plasmid expression vector. The techniques for overexpression in E. coli are well developed and work by increasing the number of copies of the gene or increasing the binding strength ...
The amelogenin gene has been most widely studied in humans, where it is a single copy gene, located on the X and Y chromosomes at Xp22.1–Xp22.3 and Yp 11.2 [5]. [3] The amelogenin gene's location on sex chromosomes has implications for variability both between the X chromosome form and the Y chromosome form (), and between alleles of AMELY among different populations.
In the human genome, CCL2 and many other CC chemokines are located on chromosome 17 (17q11.2-q21.1). [8] The gene span is 1,927 bases and the CCL2 gene resides on the Watson (plus) strand. The CCL2 gene has three exons and two introns. The CCL2 protein precursor contains a signal peptide of 23 amino acids. In turn, the mature CCL2 is 76 amino ...
The protein has four isoforms—alpha-, beta-, gamma-, and delta-PPT—which can variably undergo post-translational modification to produce neurokinin A (formerly known as substance K) and substance P. [7] [8] Alpha- and delta-PPT can only be modified to substance P, whereas beta- and gamma-PPT can produce both substance P and neurokinin A. [9]