Male amelogenin dropouts: phylogenetic context, origins and implications

Forensic Science International

Volumn 166, Issue 2-3, 2007, Pages 155-163

  Cadenas, A M ^a   Regueiro, M ^a   Gayden, T ^a   Singh, N ^b   Zhivotovsky, L A ^c   Underhill, P A ^d   Herrera, R J ^a  

^a FLORIDA INTERNATIONAL UNIVERSITY   (United States)

^b HENAN UNIVERSITY   (China)

^c VAVILOV INSTITUTE OF GENERAL GENETICS   (Russian Federation)

^d STANFORD UNIVERSITY   (United States)

Author keywords

Amelogenin; Deletion; Forensic; Y SNP; Y STR

Indexed keywords

AMELOGENIN;

ADULT; ALLELE; ARTICLE; ELECTROPHORESIS; GENDER; GENE DELETION; GENE LOCUS; HUMAN; HUMAN EXPERIMENT; INDIA; MALE; NORMAL HUMAN; PHENOTYPE; PHYLOGENY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 33847064185     PISSN: 03790738     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.forsciint.2006.05.002     Document Type: Article

References (37)

1. Lau E.C., Mohandas T.K., Shapiro L.J., Slavkin H.C., and Snead M.L. Human and mouse amelogenin gene loci are on the sex chromosomes. Genomics 4 (1989) 162-168
2. Salido E.C., Yen P.H., Koprivnikar K., Yu L., and Shapiro L.J. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am. J. Hum. Genet. 50 (1992) 303-316
3. Akane A., Shiono H., Matsubara K., Nakahori Y., Seki S., Nagafuchi S., Yamada M., and Nakagome Y. Sex identification of forensic specimens by polymerase chain reaction (PCR): two alternative methods. Forensic Sci. Int. 49 (1991) 81-88
4. Nakahori Y., Takenaka O., and Nakagome Y. A human X-Y homologous region encodes amelogenin. Genomics 9 (1991) 264-269
5. Nakahori Y., Hamano K., Iwaya M., and Nakagome Y. Sex identification by the polymerase chain reaction using X-Y homologous primers. Am. J. Med. Genet. 39 (1991) 472-473
6. Sullivan K.M., Mannucci A., Kimpton C.P., and Gill P. A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin. Biotechniques 15 (1993) 636-641
7. Repping S., Korver C.M., Oates R.D., Silber S., van der Veen F., Page D.C., and Rozen S. Are sequence family variants useful for identifying deletions in the human Y-chromosome?. Am. J. Hum. Genet. 75 3 (2004) 514-517
8. Vogt P.H. AZF deletions and Y chromosomal haplogroups: history and update based on sequence. Hum. Reprod. Update 11 4 (2005) 319-336
9. Fernandes S., Paracchini S., Meyer L.H., Floridia G., Tyler-Smith C., and Vogt P.H. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am. J. Hum. Genet. 74 (2004) 180-187
10. Roffey P.E., Eckhoff C.I., and Kuhl J.L. A rare mutation in the amelogenin gene and its potential investigative ramifications. J. Forensic Sci. 45 (2000) 1016-1019
11. ® Profiler Plus™ Amplification Kit. Forensic Sci. Commun. 2 4 (2000)
12. Shadrach B., Commane M., Hren C., and Warshawsky I. A rare mutation in the primer binding region of the amelogenin gene can interfere with gender identification. J. Mol. Diagn. 6 4 (2004) 401-405
13. Santos F.R., Pandya A., and Tyler-Smith C. Reliability of DNA-based sex tests. Nat. Genet. 18 (1998) 103
14. Steinlechner M., Berger B., Niederstatter H., and Parson W. Rare failures in the amelogenin sex test. Int. J. Legal Med. 116 (2002) 117-120
15. Thangaraj K., Reddy A.G., and Singh L. Is the amelogenin gene reliable for gender identification in forensic casework and prenatal diagnosis?. Int. J. Legal Med. 116 (2002) 121-123
16. Chang Y.M., Burgoyne L.A., and Both K. Higher failures of amelogenin sex test in an Indian population group. J. Forensic Sci. 48 (2003) 1309-1313
17. Michael A., and Brauner P. Erroneous gender identification by the amelogenin sex test. J. Forensic Sci. 49 2 (2004) 258-259
18. Lattanzi W., Di Giacomo M.C., Lenato G.M., Chimienti G., Voglino G., Resta N., Pepe G., and Guanti G. A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome. Hum. Genet. 116 5 (2005) 395-401
19. Brinkmann B. Is the amelogenin sex test valid?. Int. J. Legal Med. 116 (2002) 63
20. Muroya K., Ishii T., Nakahori Y., Asakura Y., Tachibana K., Masuno M., Imaizumi K., Tanaka Y., Kawada Y., Yukizane S., and Ogata T. Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: molecular analysis in four patients. Genes Chromosomes Cancer 25 (1999) 40-45
21. Tiepolo L., and Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet. 34 (1976) 119-124
22. Antunez de Mayolo G., Antunez de Mayolo A., Antunez de Mayolo P., Papiha S.S., Hammer M., Yunis J.J., Yunis E.J., Damodaran C., Martinez de Pancorbo M., Caeiro J.L., Puzyrev V.P., and Herrera R.J. Phylogenetics of worldwide human populations as determined by polymorphic Alu insertions. Electrophoresis 23 (2002) 3346-3356
23. Sengupta S., Zhivotovsky L.A., King R., Mehdi S.Q., Edmonds C.A., Chow C.T., Lin A.A., Mitra M., Sil S.K., Ramesh A., Usha Rani M.V., Thakur C.M., Cavalli-Sforza L.L., Majumder P.P., and Underhill P.A. Polarity and temporality of high-resolution Y-chromosome distributions in India identify both indigenous and exogenous expansions and reveal minor genetic influence of Central Asian pastoralists. Am. J. Hum. Genet. 78 2 (2006) 202-221
24. Tilford C.A., Kuroda-Kawaguchi T., Skaletsky H., Rozen S., Brown L.G., Rosenberg M., McPherson J.D., Wylie K., Sekhon M., Kucaba T.A., Waterston R.H., and Page D.C. A physical map of the human Y chromosome. Nature 409 6822 (2001) 943-945
25. Vollrath D., Foote S., Hilton A., Brown L.G., Beer-Romero P., Bogan J.S., and Page D.C. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 258 5079 (1992) 52-59
26. Underhill P.A., Jin L., Lin A.A., Mehdi S.Q., Jenkins T., Vollrath D., Davis R.W., Cavalli-Sforza L.L., and Oefner P.J. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res. 7 10 (1997) 947-949
27. Sulston J.E., and Waterston R. Toward a complete human genome sequence. Genome Res. 8 11 (1998) 1097-1108
28. T. Hudson, Whitehead Institute/MIT Center for Genome Research; Physically Mapped STSs, 1995, unpublished.
29. T. Kuroda-Kawaguchi, H. Skaletsky, P.J. Minx, L.G. Brown, S. Rozen, R.K. Wilson, R.H. Waterston, D.C. Page, The DNA sequence of the human Y chromosome, unpublished.
30. Seielstad M.T., Hebert J.M., Lin A.A., Underhill P.A., Ibrahim M., Vollrath D., and Cavalli-Sforza L.L. Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition. Hum. Mol. Genet. 3 12 (1994) 2159-2161
31. Cinnioǧlu C., King R., Kivisild T., Kalfoglu E., Atasoy S., Cavalleri G.L., Lillie A.S., Roseman C.C., Lin A.A., Prince K., Oefner P.J., Shen P., Semino O., Cavalli-Sforza L.L., and Underhill P.A. Excavating Y-chromosome haplotype strata in Anatolia. Hum. Genet. 114 (2004) 127-148
32. Hammer M.F., and Horai S. Y chromosomal DNA variation and the peopling of Japan. Am. J. Hum. Genet. 56 (1995) 951-962
33. Y Chromosome Consortium. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res. 12 (2002) 339-348
34. Zhivotovsky L.A., Rosenberg N.A., and Feldman M.W. Features of evolution and expansion of modern humans inferred from genomewide microsatellite markers. Am. J. Hum. Genet. 72 (2003) 1171-1186
35. Zhivotovsky L.A., Underhill P.A., Cinnioǧlu C., Kayser M., Morar B., Kivisild T., Scozzari R., Cruciani F., Destro-Bisol G., Spedini G., Chambers G.K., Herrera R.J., Yong K.K., Gresham D., Tournev I., Feldman M.W., and Kalaydjieva L. The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am. J. Hum. Genet. 74 (2004) 50-61
36. Zhivotovsky L.A., and Underhill P.A. On the evolutionary mutation rate at Y-chromosome STRs: comments on paper by Di Giacomo et al. (2004). Hum. Genet. 116 (2005) 529-532
37. Semino O., Magri C., Benuzzi G., Lin A.A., Al-Zahery N., Battaglia V., Maccioni L., Triantaphyllidis C., Shen P., Oefner P.J., Zhivotovsky L.A., King R., Torroni A., Cavalli-Sforza L.L., Underhill P.A., and Santachiara-Benerecetti A.S. Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area. Am. J. Hum. Genet. 74 (2004) 1023-1034