MYH16 gene

The MYH16 gene encodes a protein called myosin heavy chain 16, which is a muscle protein in mammals. At least in primates, it is a specialized muscle protein found only in the temporalis and masseter muscles of the jaw.^[3][4] Myosin heavy chain proteins are important in muscle contraction, and if they are missing, the muscles will be smaller.^[3] In non-human primates, MYH16 is functional and the animals have powerful jaw muscles. In humans, the MYH16 gene has a mutation that causes the protein not to function.^[5] Although the exact importance of this change in accounting for differences between humans and other apes is not yet clear, such a change may be related to increased brain size and finer control of the jaw, which facilitates speech.^[3] It is not clear how the MYH16 mutation relates to other changes to the jaw and skull in early human evolution (for example, whether the MYH16 mutation happened first and led to other changes, or whether the MYH16 mutation happened after other changes made the MYH16 protein no longer necessary).^[3]

MYH16
Identifiers
Aliases	MYH16, MHC20, MYH16P, MYH5, myosin, heavy chain 16 pseudogene, myosin heavy chain 16 pseudogene, MYH16 gene
External IDs	GeneCards: MYH16; OMA:MYH16 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q22.1 Start 99,238,829 bp[1] End 99,311,130 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle right testis left testis islet of Langerhans right uterine tube stromal cell of endometrium gallbladder gonad tibial arteries skeletal muscle tissue n/a More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 84176 n/a Ensembl ENSG00000002079 n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) Chr 7: 99.24 – 99.31 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

The initial discovery of the human MYH16 mutation was published in 2004 by a team at the University of Pennsylvania led by Hansell H. Stedman.^[4] The date of the mutation has variously been estimated at 2.4 million years ago^[4] or 5.3 million years ago.^[6]

The MYH16 gene is present in dogs,^[6] but does not appear to be present in mice.^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000002079 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Carroll, Sean B. (2005). Endless forms most beautiful: the new science of evo-devo and the making of the animal kingdom. New York: Norton. pp. 272–274. ISBN 0-393-32779-5.
4. Stedman HH, Kozyak BW, Nelson A, Thesier DM, Su LT, Low DW, Bridges CR, Shrager JB, Minugh-Purvis N, Mitchell MA (March 2004). "Myosin gene mutation correlates with anatomical changes in the human lineage". Nature. 428 (6981): 415–8. Bibcode:2004Natur.428..415S. doi:10.1038/nature02358. PMID 15042088. S2CID 4304466.
5. Pereira TV, Salzano FM, Mostowska A, Trzeciak WH, Ruiz-Linares A, Chies JA, Saavedra C, Nagamachi C, Hurtado AM, Hill K, Castro-de-Guerra D, Silva-Júnior WA, Bortolini MC (April 2006). "Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development". Proc. Natl. Acad. Sci. U.S.A. 103 (15): 5676–81. Bibcode:2006PNAS..103.5676P. doi:10.1073/pnas.0509562103. PMC 1458632. PMID 16585527.
6. Perry GH, Verrelli BC, Stone AC (March 2005). "Comparative analyses reveal a complex history of molecular evolution for human MYH16". Mol. Biol. Evol. 22 (3): 379–82. doi:10.1093/molbev/msi004. PMID 15470226. S2CID 44618003.
7. Zhu J, Sanborn JZ, Diekhans M, Lowe CB, Pringle TH, Haussler D (December 2007). "Comparative genomics search for losses of long-established genes on the human lineage". PLOS Comput. Biol. 3 (12): e247. Bibcode:2007PLSCB...3..247Z. doi:10.1371/journal.pcbi.0030247. PMC 2134963. PMID 18085818.

External links

• Story from Science Scoop
• Hopkin M (25 March 2004). "Jaw-dropping theory of human evolution". Nature News. doi:10.1038/news040322-9.
• "Symbol Report: MYH16". HUGO Gene Nomenclature Committee (HGNC).