User:Kristyjay/sandbox
Overview[edit]
The family with sequence similarity 43 member A (FAM43A) gene codes for a protein that is conserved in primates[1], and orthologs have been found in vertebrate and invertebrate species[2]. Three transcripts have been identified, an un-spliced non-coding transcript ad two protein coding isoforms. [3]
Gene[edit]
Located on the long arm of Chromosome 3 at 3q29, is comprised of 2,493 bases containing a phosphotyrosine interaction domain, putative phosphoinositide binding site and putative peptide binding sites[4]. Expression at high levels has been recorded in the brain (22), tumor tissue (20), lung (13), spleen (12), pancreas (11), and other tissues[5]. The similar gene in Caenorhabditis elegans XM208, is expressed at a high level (92%) in the embryo and not expressed in the adult; maps to the X-chromosome and the in vivo function is unknown[6]. Global alignment of FAM43A genes of H. sapiens, G. gallus, and C. elegans can be seen below, with G. gallus sharing 72.4% similarity, and C. elegans 35.6%.
Introduction[edit]
The FAM43A gene has been identified in cDNA screening as a possible cancer development and progression candidate gene[7]. Unpublished data from Zhang et al. indicates that FAM43A could possess tumor suppressor function[8] however the direct interaction is unknown. As well as playing a role in cancer development, FAM43A has been identified as a possible autism spectrum disorder (ASD) candidate gene, with mutations within the upstream SNP rs789859 correlating with the presentation of ASD and learning disorder; suggesting that this SNP is the promoter region for the downstream FAM43A gene[9]. The 2014 study completed by Baron-Cohen et al. involved the screening of 906 K SNPs within the genome to identify possible candidate genes, with FAM43A being the closest gene to the polymorphism.
Protein[edit]
Variation[edit]
Being bold is important on Wikipedia[10][11]
Notes[edit]
- ^ "FAM43A gene". Wikipedia. Retrieved February 4, 2018.
- ^ "Standard Protein Blast". NCBI. National Library of Medicine. Retrieved February 18, 2018.
- ^ "FAM43A gene". NCBI AceView. Retrieved February 4, 2018.
- ^ "NCBI Protein". NCBI. U.S. National Library of Medicine. Retrieved February 18, 2018.
- ^ "FAM43A gene". NCBI AceView. Retrieved February 4, 2018.
- ^ "Caenorhabditis elegans gene XM208". NCBI AceView. Retrieved February 4, 2018.
- ^ Wan; et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Nat. Acad. Sci U.S.A. 101 (44): 15724–15729.
{{cite journal}}: Explicit use of et al. in:|first1=(help) - ^ "FAM43A mRNA page". NCBI. Retrieved February 4, 2018.
- ^ Baron-Cohen; et al. A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study. PLoS One.
{{cite book}}: Explicit use of et al. in:|first1=(help) - ^ Be bold guideline. Wikipedia. "The Free Encyclopedia." Retrieved February 4. 2018.
- ^ Broughton, John (2008). Wikipedia: The Missing Manual. Sebastopol, CA: O'Reilly Media.