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Molecular Biology of the Amelogenin Gene
Published in Colin Robinson, Jennifer Kirkham, Roger Shore, Dental Enamel, 2017
James P. Simmer, Malcolm L. Snead
Amelogenins are the major secretory product of the ameloblast cell lineage and represent a family of proteins that comprise between 60 and 90% of the protein in the developing enamel matrix5,6 during the early stages of development. Using molecular biology approaches, the amelogenin gene has been explored for several species. The principal focus of interest has been directed toward primate, murine and bovine species. The primate and bovine species each reveal copies of amelogenin genes located upon both the X- and Y-chromosomes, whereas the murine strains examined reveal only an X-chromosomal copy of the amelogenin gene.11,12 Fine gene mapping13,14 was first performed in man and demonstrated that the amelogenin genes were located on the short arm of the X-chromosome at high-resolution band Xp22.1-Xp22.3 (AMGX) with a Y-chromosomal counterpart near the centromere, mapping to band Ypl 11.2 (AMGY). These genes were previously referred to as AMELX and AMELY but were renamed by the HGM Nomenclature Committee as AMGX and AMGY, respectively. The positions of AMGX and AMGY approximate the pseudoautosomal domains that routinely exchange during meiotic recombination (reviewed in Reference 15). A scaled drawing of the human X- and Y-chromosomes is shown in Figure 1. There are several fascinating features of the amelogenin gene that result from its unique chromosomal position. Recombination between the X- and Y-chromosomes is believed to be essential to gamete fertility because deletions in chromosomal structure adjacent to the pseudoautosomal region result in infertile males.16
Investigation of LOY in Prostate, Pancreatic, and Colorectal Cancers in males: A case–control study
Published in Expert Review of Molecular Diagnostics, 2020
Ambreen Asim, Sarita Agarwal, Kapil Kumar Avasthi, Sanjoy Sureka, Neeraj Rastogi, Deepika Delsa Dean, Samir Mohindra
LOY was determined by quantitative fluorescent polymerase chain reaction (QF-PCR) as previously described [3]. The relative amount of Y was analyzed by the ratio of chromosome Y/chromosome X based on fluorescent signals of co-amplified Y-X homologous amelogenin genes, i.e., AMELY and AMELX. AMELY and AMELX ratio can be easily differentiated based on 6 base pair deletion in intron 1 of AMELX (106 bp) compared to AMELY (112 bp). When these amelogenin regions are co-amplified and quantified by capillary electrophoresis, it reveals a ratio of 1:1 (106/112 bp peaks) in normal samples. A normal AMELY/X ratio is 1 for male samples.
Peptidylarginine deiminase-4 gene polymorphisms are associated with systemic lupus erythematosus and lupus nephritis
Published in Scandinavian Journal of Rheumatology, 2019
L Massarenti, C Enevold, D Damgaard, N Ødum, CH Nielsen, S Jacobsen
Based on previously reported associations with autoimmune disease and/or direct effects on enzyme function or expression, we selected nine SNPs in the human PADI4 gene for analyses (Table 2). The resulting panel comprised three missense, two synonymous, three intron-located, and one 5ʹ UTR SNPs. As an additional quality control, an in-house test for gender determination based on a six base-pair difference between the AMELX and AMELY genes (35), respectively located on the X and Y chromosomes, was included as part of the multiplex SNP panel, as described below.