title: Distinct breakpoints in two cases with deletion in the Yp11.2 region in Japanese population.
abstract: The amelogenin gene on the Y chromosome (AMELY) is a homolog of the X chromosome amelogenin gene (AMELX), and the marker is employed for sexing in forensic casework. Deletion of the sequences in the Yp11.2 region containing the AMELY locus has been found in males from various ethnic populations. Two cases of AMELY null males found in the Japanese population had different Y haplogroups and deletion mapping. Proximal and distal breakpoints of a sample of haplogroup D2* were located in TSPYA and TSPYB arrays, respectively, suggesting that the deletion mechanism was non-allelic homologous recombination (NAHR). On the other hand, a sample of haplogroup O3a3c* had the distal breakpoint in the TSPYB array and the proximal breakpoint at position 7.94 Mb, not in the TSPYA array. The likely deletion mechanism is non-homologous end-joining. High-resolution STS mapping in the TSPYB array showed the distal breakpoints differed according to the haplogroups. The deletion length was estimated as 3.1-3.7 Mb and 1.6-1.7 Mb for the sample of haplogroup D2* and O3a3c*, respectively. These deletion events should have occurred independently.
authors.affiliation: Department of Legal Medicine, School of Medicine, Iwate Medical University, Morioka, Japan. rkumagai@iwate-med.ac.jp
authors.forename: Reiko
authors.initials: R
authors.lastname: Kumagai
authors.forename: Yoshitoshi
authors.initials: Y
authors.lastname: Sasaki
authors.forename: Takuya
authors.initials: T
authors.lastname: Tokuta
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Biwasaka
authors.forename: Aya
authors.initials: A
authors.lastname: Matsusue
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Aoki
authors.forename: Koji
authors.initials: K
authors.lastname: Dewa
mesh_terms: D053523:Amelogenin / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D041322:Chromosomes, Human, Y; D017931:DNA Primers; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D019849:Sex Determination Processes
chemical_list: C507202:AMELY protein, human; D053523:Amelogenin; D017931:DNA Primers; D005819:Genetic Markers