A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome

Human Genetics

Volumn 116, Issue 5, 2005, Pages 395-401

  Lattanzi, Wanda ^a   Di Giacomo, Marilena C ^a   Lenato, Gennaro M ^a   Chimienti, Guglielmina ^b   Voglino, Gianfranco ^c   Resta, Nicoletta ^a   Pepe, Gabriella ^b   Guanti, Ginevra ^a  

^a POLICLINICO   (Italy)

^b UNIVERSITY OF BARI   (Italy)

^c Lab Genet Molec/Citogenet Promea   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMELOGENIN;

ADULT; AMELY GENE; AMNION; ARTICLE; CHROMOSOME YP; CONTROLLED STUDY; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENDER IDENTITY; GENE; GENE LOCUS; GENETIC POLYMORPHISM; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OLIGOSPERMIA; PHENOTYPE; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; SEQUENCE TAGGED SITE; X CHROMOSOME;

ADULT; AMELOGENIN; CHROMOSOMES, HUMAN, Y; DENTAL ENAMEL PROTEINS; ELECTROPHORESIS, GEL, PULSED-FIELD; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; OLIGOSPERMIA; SEQUENCE TAGGED SITES;

EID: 17144412588     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1238-z     Document Type: Article

References (23)

1. Akane A, Shiono H, Matsubara K, Nakahori Y, Seki S, Nagafuchi S, Yamada M, Nakagome Y (1991) Sex identification of forensic specimens by polymerase chain reaction (PCR): Two alternative methods. Forensic Sci Int 49:81-88 10.1016/0379-0738(91)90174-H
2. Aldred MJ, Crawford PJM, Roberts E, Gillespie CM, Thomas NST, Fenton I, Sandkuul LA, Harper PS (1992) Genetic heterogeneity in X-linked amelogenesis imperfecta. Genomics 14:567-573
3. Chang YM, Burgoyne LA, Both K (2003) Higher failures of amelogenin sex test in an Indian population group. J Forensic Sci 48:1309-1313
4. Chen E, Piddington R, Decker S, Park J, Yuan ZA, Abrams WR, Rosenbloom J, Feldman G, Gibson CW (1994) Regulation of amelogenin gene expression during tooth development. Dev Dyn 199:189-198
5. Haas-Rochholz H, Weiler G (1997) Additional primer sets for an amelogenin gene PCR-based DNA-sex test. Int J Legal Med 110:312-315
6. Hart PS, Vlaservich AC, Hart TC, Wright JT (2000) Polymorphism (g2035C>T) in the amelogenin gene. Hum Mutat 15:298 10.1002/ (SICI)1098-1004(200003)15:3<298::AID-HUMU20>3.0.CO;2-D
7. Lackner C, Boerwinkle E, Leffert C, Rahming T, Hobbs H (1991) Molecular basis of apolipoprotein(a) size heterogeneity as revealed by pulsed-field gel electrophoresis. J Clin Invest 87:2153-2161
8. Lagerstrom M, Dahl N, Nakahori Y, Nakagome Y, Backman B, Landegren U, Pettersson UA (1991) Deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics 10:971-975 10.1016/ 0888-7543(91)90187-J
9. Lau YF (1999) Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Am J Hum Genet 64:921-927 10.1086/302353
10. Lench NJ, Winter GB (1995) Characterization of molecular defects in X-linked amelogenesis imperfecta (AIH1) Hum Mutat 5:251-259
11. Nakahori Y, Takenaka O, Nakagome Y (1991a) A human X-Y homologous region encodes amelogenin. Genomics 9:264-269 1:CAS:528:DyaK3MXmslWqtr8%3D
12. Nakahori Y, Hamano K, Iwaya M, Nakagome Y (1991b) Sex identification by the polymerase chain reaction using X-Y homologous primers. Am J Med Genet 39:472-473
13. Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, Page DC, Rozen S (2002) Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 71:906-922 10.1086/342928
14. Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, de Vries JW, Oates RD, Silber S, van der Veen F, Page DC, Rozen S (2003) Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 35:247-251 10.1038/ng1250
15. Roffey PE, Eckhoff CI, Kuhl JL (2000) A rare mutation in the amelogenin gene and its potential investigative ramifications. J Forensic Sci 45:1016-1019
16. Santos FR, Pandya A, Tyler-Smith C (1998) Reliability of DNA-based sex tests. Nat Genet 18:103 10.1038/ng0298-103
17. Schnieders, F, Dork T, Arnemann J, Vogel T, Werner M, Schmidtke, J (1996) Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues. Hum Mol Genet 5:1801-1807 10.1093/hmg/5.11.1801
18. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R, McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S, Page DC (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825-837 10.1038/nature01722
19. Steinlechner M, Berger B, Niederstatter H, Parson W (2002) Rare failures in the amelogenin sex test. Int J Legal Med 116:117-120
20. Sullivan KM, Mannucci A, Kimpton CP, Gill P (1993) A rapid and quantitative DNA sex test: Fluorescence-based PCR analysis of X-Y homologous gene amelogenin. Biotechniques 15:636-641
21. Thangaraj K, Reddy AG, Singh L (2002) Is the amelogenin gene reliable for gender identification in forensic casework and prenatal diagnosis? Int J Legal Med 116:121-123
22. Voglino G, Marongiu A, Massobrio M, Campogrande M, Todros T (2002) Rapid prenatal diagnosis of aneuploidies. Lancet 359:442 10.1016/ S0140-6736(02)07572-4
23. Waldman AS, and Liskay RM (1988) Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology. Mol Cell Biol 8:5350-5357