AMELY explained

Amelogenin, Y isoform is a protein that in humans is encoded by the AMELY gene.^{[1] [2]} AMELY is located on the Y chromosome and encodes a form of amelogenin. Amelogenin is an extracellular matrix protein involved in biomineralization during tooth enamel development.

Clinical significance

Mutations in the related AMELX gene on the X chromosome cause X-linked amelogenesis imperfecta.

Further reading

• Nakahori Y, Tamura T, Nagafuchi S . Molecular cloning and mapping of 10 new probes on the human Y chromosome. . Genomics . 9 . 4 . 765–9 . 1991 . 2037302 . 10.1016/0888-7543(91)90373-M . etal.
• Lau EC, Mohandas TK, Shapiro LJ . Human and mouse amelogenin gene loci are on the sex chromosomes. . Genomics . 4 . 2 . 162–8 . 1989 . 2737677 . 10.1016/0888-7543(89)90295-4 . etal.
• Skaletsky H, Kuroda-Kawaguchi T, Minx PJ . The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. . Nature . 423 . 6942 . 825–37 . 2003 . 12815422 . 10.1038/nature01722 . 2003Natur.423..825S . etal. free .
• Jobling MA, Lo IC, Turner DJ . Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y . Hum. Mol. Genet. . 16 . 3 . 307–16 . 2007 . 17189292 . 2590852 . 10.1093/hmg/ddl465 . etal.
• Gerhard DS, Wagner L, Feingold EA . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 528928 . 10.1101/gr.2596504 . etal.
• Salido EC, Yen PH, Koprivnikar K . The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes . Am. J. Hum. Genet. . 50 . 2 . 303–16 . 1992 . 1734713 . 1682460 . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 139241 . 10.1073/pnas.242603899 . 2002PNAS...9916899M . etal. free .
• Chen AP, Chen Y, Wang HP . [Types and frequencies of variants in Amelogenin gene in Chinese population] . Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 24 . 6 . 615–9 . 2007 . 18067069 . etal.
• Barbe L, Lundberg E, Oksvold P . Toward a confocal subcellular atlas of the human proteome . Mol. Cell. Proteomics . 7 . 3 . 499–508 . 2008 . 18029348 . 10.1074/mcp.M700325-MCP200 . etal. free .
• Yong RY, Gan LS, Chang YM, Yap EP . Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations . Hum. Genet. . 122 . 3–4 . 237–49 . 2007 . 17588179 . 10.1007/s00439-007-0389-0 . 13481624 .

Notes and References

1. Nakahori Y, Takenaka O, Nakagome Y . A human X-Y homologous region encodes "amelogenin" . Genomics . 9 . 2 . 264–9 . February 1991 . 2004775 . 10.1016/0888-7543(91)90251-9.
2. Web site: Entrez Gene: amelogenin.