Alternative titles; symbols
HGNC Approved Gene Symbol: AMELY
Cytogenetic location: Yp11.2 Genomic coordinates (GRCh38): Y:6,865,918-6,911,752 (from NCBI)
In the course of studying DNA fragment clones from the human Y chromosome, Nakahori et al. (1991) found a clone, AMELY, that was particularly well-conserved in mammalian evolution. Homologous sequences were found on the X chromosome (AMELX; 300391). The sequences were homologous to previously sequenced cDNA clones of mouse and cattle encoding amelogenin.
Salido et al. (1992) presented evidence from studies of male developing tooth buds that both the AMGX gene and the AMGY gene are transcriptionally active. The promoter region and the predicted protein sequences of both genes were presented. These are not pseudoautosomal genes since females heterozygous for mutations in the AMGX gene causing amelogenesis imperfecta show lyonization, i.e., a mosaic pattern of enamel abnormality.
Nakahori et al. (1991) identified 3 exons in both the AMELY and AMELX genes.
The AMELY gene on the Y chromosome corresponds to the AMELX gene that was mapped to chromosome Xp22.3-p22.1 by Lau et al. (1989). Lau et al. (1989) assigned the AMELY gene to the pericentric region of the Y chromosome, possibly Yq11, by hybridization to DNA from human-mouse hybrid cells containing various deletions of the X and Y chromosomes. The possible relation to the Y-chromosomal locus postulated for tooth size, which maps to approximately the same area (see 475000), is unclear.
The amelogenin gene in the mouse appears to be located solely on the X chromosome (Chapman et al., 1991).
By deletion mapping, based on the analysis of DNA from a series of XX male patients (with X-Y interchange) and individuals with aberrant Y chromosomes, Bailey et al. (1992) obtained results at variance with the reports mapping AMELY to proximal Yq. Their findings of a location on Yp could be reconciled by postulating the existence of pericentric inversion polymorphisms on the Y in the general population. This hypothesis could be tested by using in situ hybridization to examine the Y localization of AMELY on a large series of normal Y chromosomes.
Faerman et al. (1995) developed a sensitive and reliable method based on amplification of the AMG gene for sex identification in archaeological human remains. The AMGY allele carries a small deletion in the first intron, facilitating the design of distinct X- and Y-specific PCR primers. Using the method, the sex was determined from the skeletal remains of 18 individuals, including young children, out of 22 examined from periods ranging from 200 to around 8,000 years ago. Cortical and cranial bones, as well as teeth, were found to provide sufficiently preserved DNA.
Lattanzi et al. (2005) found a large interstitial deletion of the Y short arm encompassing the AMELY locus in 2 unrelated individuals. One case was identified from a sample of 493 infertile males; the other arose from studies done on 13,000 unselected amniotic fluid samples from male fetus pregnancies (indicating an overall prevalence of 0.008%). Lattanzi et al. (2005) commented that even though the frequency of the amelogenin deletion is low, conclusions about gender should not be drawn based on amelogenin alone in situations involving prenatal diagnosis, paternity testing, or criminal investigation.
Using a combination of STS deletion mapping, binary marker and Y-short tandem repeat haplotyping, and TSPY (480100) copy number estimation, Jobling et al. (2007) identified 4 distinct classes of deletions affecting chromosome Yp in 45 males from 12 different populations. The most common deletion class was found in 41 Y chromosomes (91%) and appeared to be caused by nonallelic homologous recombination between the major TSPY repeat array and a single telomeric copy of the TSPY gene located over 3 Mb from the array. This deletion resulted in loss of the AMELY, TBL1Y (400033), and PRKY (400008) genes, which lie in the region separating the single TSPY gene and the TSPY repeat array, as well as reduced TSPY copy number. The rarer deletion classes did not involve the major TSPY repeat array, but resulted in loss of the more telomeric PCDH11Y gene (400022) in addition to AMELY, TBL1Y, PRKY, and the single telomeric TSPY copy. The persistence and expansion of deletion lineages, together with phenotypic evidence, suggested that absence of these genes has no major deleterious effects.
By PCR analysis, Bailey et al. (1992) found a remarkable degree of conservation of AMELY primers and PCR product size among the great apes and Old World monkeys.
Bailey, D. M. D., Affara, N. A., Ferguson-Smith, M. A. The X-Y homologous gene amelogenin maps to the short arms of both the X and Y chromosomes and is highly conserved in primates. Genomics 14: 203-205, 1992. [PubMed: 1427830] [Full Text: https://doi.org/10.1016/s0888-7543(05)80310-6]
Chapman, V. M., Keitz, B. T., Disteche, C. M., Lau, E. C., Snead, M. L. Linkage of amelogenin (Amel) to the distal portion of the mouse X chromosome. Genomics 10: 23-28, 1991. [PubMed: 1675194] [Full Text: https://doi.org/10.1016/0888-7543(91)90479-x]
Faerman, M., Filon, D., Kahila, G., Greenblatt, C. L., Smith, P., Oppenheim, A. Sex identification of archaeological human remains based on amplification of the X and Y amelogenin alleles. Gene 167: 327-332, 1995. [PubMed: 8566801] [Full Text: https://doi.org/10.1016/0378-1119(95)00697-4]
Jobling, M. A., Lo, I. C. C., Turner, D. J., Bowden, G. R., Lee, A. C., Xue, Y., Carvalho-Silva, D., Hurles, M. E., Adams, S. M., Chang, Y. M., Kraaijenbrink, T., Henke, J., Guanti, G., McKeown, B., van Oorschot, R. A. H., Mitchell, R. J., de Knijff, P., Tyler-Smith, C., Parkin, E. J. Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. Hum. Molec. Genet. 16: 307-316, 2007. [PubMed: 17189292] [Full Text: https://doi.org/10.1093/hmg/ddl465]
Lattanzi, W., Di Giacomo, M. C., Lenato, G. M., Chimienti, G., Voglino, G., Resta, N., Pepe, G., Guanti, G. A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome. Hum. Genet. 116: 395-401, 2005. [PubMed: 15726419] [Full Text: https://doi.org/10.1007/s00439-004-1238-z]
Lau, E. C., Mohandas, T. K., Shapiro, L. J., Slavkin, H. C., Snead, M. L. Human and mouse amelogenin gene loci are on the sex chromosomes. Genomics 4: 162-168, 1989. [PubMed: 2737677] [Full Text: https://doi.org/10.1016/0888-7543(89)90295-4]
Nakahori, Y., Takenaka, O., Nakagome, Y. A human X-Y homologous region encodes 'amelogenin'. Genomics 9: 264-269, 1991. [PubMed: 2004775] [Full Text: https://doi.org/10.1016/0888-7543(91)90251-9]
Salido, E. C., Yen, P. H., Koprivnikar, K., Yu, L.-C., Shapiro, L. J. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am. J. Hum. Genet. 50: 303-316, 1992. [PubMed: 1734713]