The Future Of Y Chromosome Testing

The field of Y chromosome analysis and its application to human identity testing has undergone rapid improvements in recent years. New markers and population groups are being characterized (Kayser et al. 2004). Commercial kits are now available to enable forensic practitioners to use core loci in male-specific amplifications. Validation studies and inter-laboratory studies have demonstrated that Y-STR typing is reliable. Internet-accessible databases house thousands of Y-STR haplotypes. Multiple examples exist of the value of Y-STR testing in forensic DNA casework (see Table 9.7).

The field appears poised to apply the power of paternal lineage testing yet the true potential of Y chromosome testing is still largely untapped. Only time will tell if Y chromosome analysis will routinely be performed in forensic DNA casework rather than as a specialized technique only referred to in unique situations. Databases will need to be continually enlarged to strengthen statistical estimates of a match. In addition, the more than 200 Y-STR and 250 Y-SNP markers now available need to be further characterized through evaluation of variation in different population groups to understand their value relative to the core loci widely used today.

POINTS FOR DISCUSSION

1. Will the availability and use of Y chromosome tests change the strategy for examining forensic DNA evidence in the future? If so, how?

2. What are some of the challenges with trying to determine a reliable Y-STR profile frequency estimate when a suspect cannot be excluded from contributing to a crime scene sample?

REFERENCES AND ADDITIONAL READING

Alves, C., Gusmao, L., Barbosa, J. and Amorim, A. (2003) Forensic Science International, 134, 126-133.

Ayub, Q., Mohyuddin, A., Qamar, R., Mazhar, K., Zerjal, T., Mehdi, S.Q. and Tyler-Smith, C. (2000) Nucleic Acids Research, 28, e8.

Berger, B., Niederstatter, H., Brandstatter, A. and Parson, W. (2003) Forensic Science International, 137, 221-230.

Bonne-Tamir, B., Korostishevsky, M., Redd, A.J., Pel-Or, Y., Kaplan, M.E. and Hammer, M.F. (2003) Annals of Human Genetics, 67, 153-164.

Bosch, E., Lee, A.C., Calafell, F., Arroyo, E., Henneman, P., de Knijff, P. and Jobling, M.A. (2002) Forensic Science International, 125, 42-51.

Budowle, B., Sinha, S.K., Lee, H.S. and Chakraborty, R. (2003) Forensic Science Review, 15, 153-164.

Butler, J.M., Schoske, R., Vallone, P.M., Kline, M.C., Redd, A.J. and Hammer, M.F. (2002) Forensic Science International, 129, 10-24.

Butler, J.M. (2003) Forensic Science Review, 15, 91-111.

Cali, F., Forster, P., Kersting, C., Mirisola, M.G., D'Anna, R., De Leo, G. and Romano, V. (2002) International Journal of Legal Medicine, 116, 133-138.

Carracedo, A., Beckmann, A., Bengs, A., Brinkmann, B., Caglia, A., Capelli, C., Gill, P.,

Gusmao, L., Hagelberg, C., Hohoff, C., Hoste, B., Kihlgren, A., Kloosterman, A., Myhre, D.B., Morling, N., O'Donnell, G., Parson, W., Phillips, C., Pouwels, M., Scheithauer, R., Schmitter, H., Schneider, P.M., Schumm, J., Skitsa, I., Stradmann-Bellinghausen, B., Stuart, M., Syndercombe, C.D. and Vide, C. (2001) Forensic Science International, 119, 28-41.

Cerri, N., Ricci, U., Sani, I., Verzeletti, A. and De Ferrari, F. (2003) Croatian Medical Journal, 44, 289-292.

Coyle, H.M., Budowle, B., Bourke, M.T., Carita, E., Hintz, J.L., Ladd, C., Roy, C., Yang, N.C., Palmbach, T. and Lee, H.C. (2003) Journal of Forensic Sciences, 48, 435-437.

de Knijff, P., Kayser, M., Caglia, A., Corach, D., Fretwell, N., Gehrig, C., Graziosi, G.,

Heidorn, F., Herrmann, S., Herzog, B., Hidding, M., Honda, K., Jobling, M., Krawczak, M., Leim, K., Meuser, S., Meyer, E., Oesterreich, W., Pandya, A., Parson, W., Penacino, G., Perez-Lezaun, A., Piccinini, A., Prinz, M., Schmitt, C., Schneider, P.M., Szibor, R., Teifel-Greding, J., Weichhold, G.M. and Roewer, L. (1997) International Journal of Legal Medicine, 110, 134-140.

de Knijff, P. (2000) American Journal of Human Genetics, 67, 1055-1061.

de Knijff, P. (2003) Profiles in DNA, 7, 3-5. Available online at: http://www.promega.com/profiles.

Dupuy, B.M., Stenersen, M., Egeland, T. and Olaisen, B. (2004) Human Mutation, 23, 117-124.

Foster, E.A., Jobling, M.A., Taylor, P.G., Donnelly, P., de Knijff, P., Mieremet, R., Zerjal, T. and Tyler-Smith, C. (1998) Nature, 396, 27-28.

Gill, P., Brenner, C., Brinkmann, B., Budowle, B., Carracedo, A., Jobling, M.A., de Knijff, P., Kayser, M., Krawczak, M., Mayr, W.R., Morling, N., Olaisen, B., Pascali, V., Prinz, M., Roewer, L., Schneider, P.M., Sajantila, A. and Tyler-Smith, C. (2001) International Journal of Legal Medicine, 114, 305-309.

Graves, J.A., Wakefield, M.J. and Toder, R. (1998) Human Molecular Genetics, 7, 1991-1996.

Gusmao, L., Gonzalez-Neira, A., Pestoni, C., Brion, M., Lareu, M.V. and Carracedo, A. (1999) Forensic Science International, 106, 163-172.

Gusmao, L., Gonzalez-Neira, A., Sanchez-Diz, P., Lareu, M.V., Amorim, A. and Carracedo, A. (2000) Forensic Science International, 112, 49-57.

Gusmao, L., Alves, C., Beleza, S. and Amorim, A. (2002a) International Journal of Legal Medicine, 116, 139-147.

Gusmao, L., Gonzalez-Neira, A., Alves, C., Lareu, M., Costa, S., Amorim, A. and Carracedo, A. (2002b) Forensic Science International, 126, 129-136.

Gusmao, L., Alves, C., Costa, S., Amorim, A., Brion, M., Gonzalez-Neira, A., Sanchez-Diz, P. and Carracedo, A. (2002c) International Journal of Legal Medicine, 116, 322-326.

Gusmao, L., Sanchez-Diz, P., Alves, C., Beleza, S., Lopes, A., Carracedo, A. and Amorim, A. (2003a) Forensic Science International, 134, 172-179.

Gusmao, L., Sanchez-Diz, P., Alves, C., Quintans, B., Garci, Poveda, E., Geada, H., Raimondi, E., Mari, Silva, d.l.F., Vide, M.C., Whittle, M.R., Zarrabeitia, M.T., Carvalho, M., Negreiros, V., Prieto, S.L., Riancho, J.A., Campos-Sanchez, R., Vieira-Silva, C., Toscanini, U., Amorim, A. and Carracedo, A. (2003b) Forensic Science International, 135, 150-157.

Hall, A. and Ballantyne, J. (2003a) Forensic Science Review, 15, 137-149.

Hall, A. and Ballantyne, J. (2003b) Analytical and Bioanalytical Chemistry, 376, 1234-1246.

Hall, A. and Ballantyne, J. (2003c) Forensic Science International, 136, 58-72.

Hammer, M.F. (1994) Molecular Biology and Evolution, 11, 749-761.

Hammer, M.F., Karafet, T.M., Redd, A.J., Jarjanazi, H., Santachiara-Benerecetti, S., Soodyall, H. and Zegura, S.L. (2001) Molecular Biology and Evolution, 18, 1189-1203.

Hammer, M.F. and Zegura, S.L. (2003) Annual Reviews in Anthropology, 31, 303-321.

Hanson, E.K. and Ballantyne, J. (2004) Journal of Forensic Sciences, 49, 40-51.

Henke, J., Henke, L., Chatthopadhyay, P., Kayser, M., Dulmer, M., Cleef, S., Poche, H. and Felske-Zech, H. (2001) Croatian Medical Journal, 42, 292-297.

Hurles, M.E. and Jobling, M.A. (2003) Nature Genetics, 34, 246-247.

Jobling, M.A. (2001a) Forensic Science International, 118, 158-162.

Jobling, M.A. (2001b) Trends in Genetics, 17, 353-357.

Jobling, M.A. and Tyler-Smith, C. (1995) Trends in Genetics, 11, 449-456.

Jobling, M.A., Pandya, A. and Tyler-Smith, C. (1997) International Journal of Legal Medicine, 110, 118-124.

Jobling, M.A. and Tyler-Smith, C. (2000) Trends in Genetics, 16, 356-362.

Jobling, M.A. and Tyler-Smith, C. (2003) Nature Reviews Genetics, 4, 598-612.

Johnson, C.L., Warren, J.H., Giles, R.C. and Staub, R.W. (2003) Journal of Forensic Sciences, 48, 1260-1268.

Kayser, M., Caglia, A., Corach, D., Fretwell, N., Gehrig, C., Graziosi, G., Heidorn, F.,

Herrmann, S., Herzog, B., Hidding, M., Honda, K., Jobling, M., Krawczak, M. , Leim, K., Meuser, S., Meyer, E., Oesterreich, W., Pandya, A., Parson, W., Penacino, G., Perez-Lezaun, A., Piccinini, A., Prinz, M., Schmitt, C., Schneider, P.M., Szibor, R., Teifel-Greding, J., Weichhold, G.M., de Knijff, P. and Roewer, L. (1997) International Journal of Legal Medicine, 110, 125-133, Appendix 141-149.

Kayser, M., Roewer, L., Hedman, M., Henke, L., Henke, J., Brauer, S., Kruger, C., Krawczak, M., Nagy, M., Dobosz, T., Szibor, R., de Knijff, P., Stoneking, M. and Sajantila, A. (2000) American Journal of Human Genetics, 66, 1580-1588.

Kayser, M. and Sajantila, A. (2001) Forensic Science International, 118, 116-121.

Kayser, M., Krawczak, M., Excoffier, L., Dieltjes, P., Corach, D., Pascali, V., Gehrig, C.,

Bernini, L.F., Jespersen, J., Bakker, E., Roewer, L. and de Knijff, P. (2001) American Journal of Human Genetics, 68, 990-1018.

Kayser, M., Brauer, S., Willuweit, S., Schadlich, H., Batzer, M.A., Zawacki, J., Prinz, M., Roewer, L. and Stoneking, M. (2002) Journal of Forensic Sciences, 47, 513-519.

Kayser, M., Brauer, S., Schadlich, H., Prinz, M., Batzer, M.A., Zimmerman, P.A., Boatin, B.A. and Stoneking, M. (2003) Genome Research, 13, 624-634.

Kayser, M. (2003) Forensic Science Review, 15, 77-89.

Kayser, M., Kittler, R., Erler, A., Hedman, M., Lee, A.C., Mohyuddin, A., Mehdi, S.Q., Rosser, Z., Stoneking, M., Jobling, M.A., Sajantila, A. and Tyler-Smith, C. (2004) American Journal of Human Genetics, 74, 1183-1197.

Kittler, R., Erler, A., Brauer, S., Stoneking, M. and Kayser, M. (2003) European Journal of Human Genetics, 11, 304-314.

Klintschar, M., Schwaiger, P., Regauer, S., Mannweiler, S. and Klieber, M. (2004) Forensic Science International, 139, 151-154.

Krawczak, M. (2001) Forensic Science International, 118, 114-115.

Lahn, B.T., Pearson, N.M. and Jegalian, K. (2001) Nature Reviews Genetics, 2, 207-216.

Lareu, M., Puente, J., Sobrino, B., Quintans, B., Brion, M. and Carracedo, A. (2001) Forensic Science International, 118, 163-168.

Lessig, R. (2003) Forensic Science Review, 15, 181-188.

Lessig, R., Willuweit, S., Krawczak, M., Wu, F.C., Pu, C.E., Kim, W., Henke, L., Henke, J., Miranda, J., Hidding, M., Benecke, M., Schmitt, C., Magno, M., Calacal, G., Delfin, F.C., de Ungria, M.C., Elias, S., Augustin, C., Tun, Z., Honda, K., Kayser, M., Gusmao, L., Amorim, A., Alves, C., Hou, Y., Keyser, C., Ludes, B., Klintschar, M., Immel, U.D., Reichenpfader, B., Zaharova, B. and Roewer, L. (2003) Legal Medicine (Toyko), 5 Suppl 1, S160-S163.

Monticello (2000) Thomas Jefferson Memorial Foundation Research Committee Report on Thomas Jefferson and Sally Hemings, 26 January 2000; available at: http://www.monticello.org.

Murray, B. and Duffy, B. (1998) US News and World Report, 9 November 1998, pp. 59-63.

Paracchini, S., Arredi, B., Chalk, R. and Tyler-Smith, C. (2002) Nucleic Acids Research, 30, e27.

Parson, W., Niederstatter, H., Kochl, S., Steinlechner, M. and Berger, B. (2001) Croatian Medical Journal, 42, 285-287.

Parson, W., Niederstatter, H., Brandstatter, A. and Berger, B. (2003) International Journal of Legal Medicine, 117, 109-114.

Pascali, V.L., Dobosz, M. and Brinkmann, B. (1998) International Journal of Legal Medicine, 112, 1.

Pereira, L., Prata, M.J. and Amorim, A. (2002) Forensic Science International, 130, 147-155.

Prinz, M., Boll, K., Baum, H. and Shaler, B. (1997) Forensic Science International, 85, 209-218.

Prinz, M., Ishii, A., Coleman, A., Baum, H.J. and Shaler, R.C. (2001) Forensic Science International, 120, 177-188.

Prinz, M. and Sansone, M. (2001) Croatian Medical Journal, 42, 288-291.

Prinz, M. (2003) Forensic Science Review, 15, 189-196.

Redd, A.J., Clifford, S.L. and Stoneking, M. (1997) Biological Chemistry, 378, 923-927.

Redd, A.J., Agellon, A.B., Kearney, V.A., Contreras, V.A., Karafet, T., Park, H., de Knijff, P., Butler, J.M. and Hammer, M.F. (2002) Forensic Science International, 130, 97-111.

Roewer, L. and Epplen, J.T. (1992) Forensic Science International, 53, 163-171.

Roewer, L., Kayser, M., de Knijff, P., Anslinger, K., Betz, A., Caglia, A., Corach, D., Furedi, S., Henke, L., Hidding, M., Kargel, H.J., Lessig, R., Nagy, M., Pascali, V.L., Parson, W., Rolf, B., Schmitt, C., Szibor, R., Teifel-Greding, J. and Krawczak, M. (2000) Forensic Science International, 114, 31-43.

Roewer, L., Krawczak, M., Willuweit, S., Nagy, M., Alves, C., Amorim, A., Anslinger, K., Augustin, C., Betz, A., Bosch, E., Caglia, A., Carracedo, A., Corach, D., Dekairelle, A., Dobosz, T., Dupuy, B.M., Furedi, S., Gehrig, C., Gusmao, L., Henke, J., Henke, L., Hidding, M., Hohoff, C., Hoste, B., Jobling, M.A., Kargel, H.J., de Knijff, P., Lessig, R., Liebeherr, E., Lorente, M., Martinez-Jarreta, B., Nievas, P., Nowak, M., Parson, W., Pascali, V.L., Penacino, G., Ploski, R., Rolf, B., Sala, A., Schmidt, U., Schmitt, C., Schneider, P.M., Szibor, R., Teifel-Greding, J. and Kayser, M. (2001) Forensic Science International, 118, 106-113.

Roewer, L. (2003) Forensic Science Review, 15, 163-170.

Rolf, B., Keil, W., Brinkmann, B., Roewer, L. and Fimmers, R. (2001) International Journal of Legal Medicine, 115, 12-15.

Rozen, S., Skaletsky, H., Marszalek, J.D., Minx, P.J., Cordum, H.S., Waterston, R.H., Wilson, R.K. and Page, D.C. (2003) Nature, 423, 873-876.

Ruiz, L.A., Nayar, K., Goldstein, D.B., Hebert, J.M., Seielstad, M.T., Underhill, P.A., Lin, A.A., Feldman, M.W. and Cavalli Sforza, L.L. (1996) Annals of Human Genetics, 60 (Pt 5), 401-408.

Sanchez, J.J., Borsting, C., Hallenberg, C., Buchard, A., Hernandez, A. and Morling, N. (2003) Forensic Science International, 137, 74-84.

Santos, F.R., Epplen, J.T. and Pena, S.D. (1993) EXS, 67, 261-265.

Saxena, R., Brown, L.G., Hawkins, T., Alagappan, R.K., Skaletsky, H., Reeve, M.P.,

Reijo, R., Rozen, S., Dinulos, M.B., Disteche, C.M. and Page, D.C. (1996) Nature Genetics, 14, 292-299.

Schneider, P.M., D'Aloja, E., Dupuy, B.M., Eriksen, B., Jangblad, A., Kloosterman, A.D., Kratzer, A., Lareu, M.V., Pfitzinger, H., Rand, S., Scheithauer, R., Schmitter, H., Skitsa, I., Syndercombe-Court, D. and Vide, M.C. (1999) Forensic Science International, 102, 159-165.

Schoske, R. (2003) PhD dissertation: the design, optimization and testing of Y chromosome short tandem repeat megaplexes. Available online at: http://www.cstl.nist.gov/biotech/ strbase/NISTpub.htm.

Schoske, R., Vallone, P.M., Ruitberg, C.M. and Butler, J.M. (2003) Analytical and Bioanalytical Chemistry, 375, 333-343.

Schoske, R., Vallone, P.M., Kline, M.C., Redman, J.W. and Butler, J.M. (2004) Forensic Science International, 139, 107-121.

Seo, Y., Takami, Y., Takahama, K., Yoshizawa, M., Nakayama, T. and Yukawa, N. (2003) Legal Medicine (Toyko), 5, 228-232.

Shewale, J.G. and Sinha, S.K. (2003) Forensic Science Review, 15, 115-136.

Shewale, J.G., Sikka, S.C., Schneida, E. and Sinha, S.K. (2003a) Journal of Forensic Sciences, 48, 127-129.

Shewale, J.G., Nasir, H., Schneida, E. and Sinha, S.K. (2003b) Proceedings of the Fourteenth International Symposium on Human Identification. Available online at: http://www. promega.com/geneticidproc/.

Sibille, I., Duverneuil, C., Lorin, d.l.G., Guerrouache, K., Teissiere, F., Durigon, M. and de Mazancourt, P. (2002) Forensic Science International, 125, 212-216.

Sinha, S.K. (2003a) Forensic Science Review, 15, 179-180.

Sinha, S.K. (2003b) Forensic Science Review, 15, 197-201.

Sinha, S.K., Budowle, B., Arcot, S.S., Richey, S.L., Chakrabor, R., Jones, M.D., Wojtkiewicz, P.W., Schoenbauer, D.A., Gross, A.M., Sinha, S.K. and Shewale, J.G. (2003a) Journal of Forensic Sciences, 48, 93-103.

Sinha, S.K., Nasir, H., Gross, A.M., Budowle, B. and Shewale, J.G. (2003b) Journal of Forensic Sciences, 48, 985-1000.

Sinha, S.K., Budowle, B., Chakraborty, R., Paunovic, A., Guidry, R.D., Larsen, C., Lal, A., Shaffer, M., Pineda, G., Sinha, S.K., Schneida, E., Nasir, H. and Shewale, J. (2004) Journal of Forensic Sciences, 49 (4), 691-700.

Skaletsky, H., Kuroda-Kawaguchi, T., Minx, P.J., Cordum, H.S., Hillier, L., Brown, L.G., 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, S.F., 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, S.P., Waterston, R.H., Wilson, R.K., Rozen, S. and Page, D.C. (2003) Nature, 423, 825-837.

Steinlechner, M., Berger, B., Niederstatter, H. and Parson, W. (2002) International Journal of Legal Medicine, 116, 117-120.

Sykes, B. and Irven, C. (2000) American Journal of Human Genetics, 66, 1417-1419.

Thangaraj, K., Reddy, A.G. and Singh, L. (2002) International Journal of Legal Medicine, 116, 121-123.

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. (2001) Nature, 409, 943-945.

Underhill, P.A., Jin, L., Lin, A.A., Mehdi, Q., Jenkins, T., Vollrath, D., Davis, R.W., Cavalli-Sforza, L.L. and Oefner, P.J. (1997) Genome Research, 7, 996-1005.

Underhill, P.A., Shen, P., Lin, A.A., Jin, L., Passarino, G., Yang, W.H., Kauffman, E., Bonne-Tamir, B., Bertranpetit, J., Francalacci, P., Ibrahim, M., Jenkins, T., Kidd, J.R., Mehdi, S.Q., Seielstad, M.T., Wells, R.S., Piazza, A., Davis, R.W., Feldman, M.W., Cavalli-Sforza, L.L. and Oefner, P.J. (2000) Nature Genetics, 26, 358-361.

Vallone, P.M. and Butler, J.M. (2004), Journal of Forensic Sciences, 49 (4), 723-732.

White, P.S., Tatum, O.L., Deaven, L.L. and Longmire, J.L. (1999) Genomics, 57, 433-437.

Yamamoto, T. (2003) Forensic Science Review, 15, 171-178.

Ye, J., Parra, E.J., Sosnoski, D.M., Hiester, K., Underhill, P.A. and Shriver, M.D. (2002) Journal of Forensic Sciences, 47, 593-600.

Y Chromosome Consortium (2002) Genome Research, 12, 339-348; see also http://ycc.biosci.arizona.edu.

Zerjal, T., Xue, Y., Bertorelle, G., Wells, R.S., Bao, W., Zhu, S., Qamar, R., Ayub, Q., Mohyuddin, A., Fu, S., Li, P., Yuldasheva, N., Ruzibakiev, R., Xu, J., Shu, Q., Du, R., Yang, H., Hurles, M.E., Robinson, E., Gerelsaikhan, T., Dashnyam, B., Mehdi, S.Q. and Tyler-Smith, C. (2003) American Journal of Human Genetics, 72, 717-721.

Zhivotovsky, L.A., Underhill, P.A., Cinnioglu, 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. (2004) American Journal of Human Genetics, 74, 50-61.

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