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3. Genome Scan of Schizophrenia

Author

Levinson, Douglas F., Mahtani, Melanie M., Nancarrow, Derek J., Brown, Donna M., Kruglyak, Leonid, Kirby, Andrew, Hayward, Nicholas K., Crowe, Raymond R., Andreasen, Nancy C., Black, Donald W., Silverman, Jeremy M., Endicott, Jean, Sharpe, Lawrence, Mohs, Richard C., Siever, Larry J., Walters, Marilyn K., Lennon, David P., Jones, Helen L., Nurs., B., Nertney, Deborah A., Daly, Mark J., Gladis, Madeline, and Mowry, Bryan J.

Published
1998

4. Mutation analysis of the CDKN2A promoter in Australian melanoma families

Author

Pollock, Pamela M., Stark, Mitchell S., Palmer, Jane M., Walters, Marilyn K., Aitken, Joanne F., Martin, N. G., Hayward, Nicholas K., Pollock, Pamela M., Stark, Mitchell S., Palmer, Jane M., Walters, Marilyn K., Aitken, Joanne F., Martin, N. G., and Hayward, Nicholas K.

Abstract

Approximately 50% of all melanoma families worldwide show linkage to 9p21-22, but only about half of these have been shown to contain germ line CDKN2A mutations. It has been hypothesized that a proportion of these families carry mutations in the noncoding regions of CDKN2A. Several Canadian families have been reported to carry a mutation in the 5' UTR, at position -34 relative to the start site, which gives rise to a novel AUG translation initiation codon that markedly decreases translation from the wild-type AUG (Liu et al., 1999). Haplotype sharing in these Canadian families suggested that this mutation is of British origin. We sequenced 1,327 base pairs (bp) of CDKN2A, making up 1,116 bp of the 5' UTR and promoter, all of exon 1, and 61 bp of intron 1, in at least one melanoma case from 110 Australian families with three or more affected members known not to carry mutations within the p16 coding region. In addition, 431 bp upstream of the start codon was sequenced in an additional 253 affected probands from two-case melanoma families for which the CDKN2A mutation status was unknown. Several known polymorphisms at positions -33, -191, -493, and -735 were detected, in addition to four novel variants at positions 120, -252, -347, and -981 relative to the start codon. One of the probands from a two-case family was found to have the previously reported Q50R mutation. No family member was found to carry the mutation at position -34 or any other disease-associated mutation. For further investigation of noncoding CDKN2A mutations that may affect transcription, allele-specific expression analysis was carried out in 31 of the families with at least three affected members who showed either complete or "indeterminate" 9p haplotype sharing without CDKN2A exonic mutations. Reverse transcription polymerase chain reaction and automated sequencing showed expression of both CDKN2A alleles in all family members tested. The lack of CDKN2A promoter mutations and the absence of transc

Published
2001

5. Tumor necrosis factor haplotype analysis amongst schizophrenia probands from four distinct populations in the Asia-Pacific region

Author

Handoko, Herlina Y., primary, Nancarrow, Derek J., additional, Hayward, Nicholas K., additional, Ohaeri, Jude U., additional, Aghanwa, Henry, additional, McGrath, John J., additional, Levinson, Douglas F., additional, Johns, Christopher, additional, Walters, Marilyn K., additional, Nertney, Deborah A., additional, Srinivasan, T.N., additional, Thara, R., additional, and Mowry, Bryan J., additional

Published
2003
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6. Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds

Author

Flores, Jose F., Pollock, Pamela M., Walker, Graeme J., Glendening, J. Michael, Lin, Amy H-T, Palmer, Jane M., Walters, Marilyn K., Hayward, Nicholas K., Fountain, Jane W., Flores, Jose F., Pollock, Pamela M., Walker, Graeme J., Glendening, J. Michael, Lin, Amy H-T, Palmer, Jane M., Walters, Marilyn K., Hayward, Nicholas K., and Fountain, Jane W.

Abstract

Germline mutations within the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene and one of its targets, the cyclin dependent kinase 4 (CDK4) gene, have been identified in a proportion of melanoma kindreds. In the case of CDK4, only one specific mutation, resulting in the substitution of a cysteine for an arginine at codon 24 (R24C), has been found to be associated with melanoma. We have previously reported the identification of germline CDKN2A mutations in 7/18 Australian melanoma kindreds and the absence of the R24C CDK4 mutation in 21 families lacking evidence of a CDKN2A mutation. The current study represents an expansion of these efforts and includes a total of 48 melanoma families from Australia. All of these families have now been screened for mutations within CDKN2A and CDK4, as well as for mutations within the CDKN2A homolog and 9p21 neighbor, the CDKN2B gene, and the alternative exon 1 (E1beta) of CDKN2A. Families lacking CDKN2A mutations, but positive for a polymorphism(s) within this gene, were further evaluated to determine if their disease was associated with transcriptional silencing of one CDKN2A allele. Overall, CDKN2A mutations were detected in 3/30 (10%) of the new kindreds. Two of these mutations have been observed previously: a 24 bp duplication at the 5' end of the gene and a G to C transversion in exon 2 resulting in an M531 substitution. A novel G to A transition in exon 2, resulting in a D108N substitution was also detected. Combined with our previous findings, we have now detected germline CDKN2A mutations in 10/48 (21%) of our melanoma kindreds. In none of the 'CDKN2A-negative' families was melanoma found to segregate with either an untranscribed CDKN2A allele, an R24C CDK4 mutation, a CDKN2B mutation, or an E1beta mutation. The last three observations suggest that these other cell cycle control genes (or alternative gene products) are either not involved at all, or to any great extent, in melanoma predisposition.

Published
1997

7. CDKN2A/p16 is inactivated in most melanoma cell lines

Author

Castellano, Marina, Pollock, Pamela M., Walters, Marilyn K., Sparrow, Louise E., Down, Louise M., Gabrielli, Brian G., Parsons, Peter G., Hayward, Nicholas K., Castellano, Marina, Pollock, Pamela M., Walters, Marilyn K., Sparrow, Louise E., Down, Louise M., Gabrielli, Brian G., Parsons, Peter G., and Hayward, Nicholas K.

Abstract

The CDKN2A gene maps to chromosome 9p21-22 and is responsible for melanoma susceptibility in some families. Its product, p16, binds specifically to CDK4 and CDK6 in vitro and in vivo, inhibiting their kinase activity. CDKN2A is homozygously deleted or mutated in a large proportion of tumor cell lines and some primary tumors, including melanomas. The aim of this study was to investigate the involvement of CDKN2A and elucidate the mechanisms of p16 inactivation in a panel of 60 cell lines derived from sporadic melanomas. Twenty-six (43%) of the melanoma lines were homozygously deleted for CDKN2A, and an additional 15 (25%) lines carried missense, nonsense, or frameshift mutations. All but one of the latter group were shown by microsatellite analysis to be hemizygous for the region of 9p surrounding CDKN2A. p16 was detected by Western blotting in only five of the cell lines carrying mutations. Immunoprecipitation of p16 in these lines, followed by Western blotting to detect the coprecipitation of CDK4 and CDK6, revealed that p16 was functionally compromised in all cell lines but the one that carried a heterozygous CDKN2A mutation. In the remaining 19 lines that carried wild-type CDKN2A alleles, Western blot analysis and immunoprecipitation indicated that 11 cell lines expressed a wild-type protein. Northern blotting was performed on the remaining eight cell lines and revealed that one cell line carried an aberrantly sized RNA transcript, and two other cell lines failed to express RNA. The promoter was found to be methylated in five cell lines that expressed CDKN2A transcript but not p16. Presumably, the message seen by Northern blotting in these cell lines is the result of cross-hybridization of the total cDNA probe with the exon 1beta transcript. Microsatellite analysis revealed that the majority of these cell lines were hemi/homozygous for the region surrounding CDKN2A, indicating that the wild-type allele had been lost. In the 11 cell lines that expressed functional

Published
1997

10. Second stage of a genome scan of schizophrenia: Study of five positive regions in an expanded sample

Author

Mowry, Bryan J., primary, Ewen, Kelly R., additional, Nancarrow, Derek J., additional, Lennon, David P., additional, Nertney, Deborah A., additional, Jones, Helen L., additional, O'Brien, Matthew S., additional, Thornley, Catherine E., additional, Walters, Marilyn K., additional, Crowe, Raymond R., additional, Silverman, Jeremy M., additional, Endicott, Jean, additional, Sharpe, Lawrence, additional, Hayward, Nicholas K., additional, Gladis, Madeline M., additional, Foote, Simon J., additional, and Levinson, Douglas F., additional

Published
2000
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11. No support for linkage to the bipolar regions on chromosomes 4p, 18p, or 18q in 43 schizophrenia pedigrees

Author

Nancarrow, Derek J., primary, Levinson, Douglas F., additional, Taylor, Jennifer M., additional, Hayward, Nicholas K., additional, Walters, Marilyn K., additional, Lennon, David P., additional, Nertney, Deborah A., additional, Jones, Helen L., additional, Mahtani, Melanie M., additional, Kirby, Andrew, additional, Kruglyak, Leonid, additional, Brown, Donna M., additional, Crowe, Raymond R., additional, Andreasen, Nancy C., additional, Black, Donald W., additional, Silverman, Jeremy M., additional, Mohs, Richard C., additional, Siever, Larry J., additional, Endicott, Jean, additional, Sharpe, Lawrence, additional, and Mowry, Bryan J., additional

Published
2000
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12. A linkage study of schizophrenia to markers within Xp11 near the MAOB gene

Author

Dann, Janine, primary, DeLisi, Lynn E, additional, Devoto, Marcella, additional, Laval, Steven, additional, Nancarrow, Derek J, additional, Shields, Gail, additional, Smith, Angela, additional, Loftus, Josephine, additional, Peterson, Paula, additional, Vita, Antonio, additional, Comazzi, Margherita, additional, Invernizzi, Giordano, additional, Levinson, Douglas F, additional, Wildenauer, Dieter, additional, Mowry, Bryan J, additional, Collier, David, additional, Powell, John, additional, Crowe, Raymond R, additional, Andreasen, Nancy C, additional, Silverman, Jeremy M, additional, Mohs, Richard C, additional, Murray, Robin M, additional, Walters, Marilyn K, additional, Lennon, David P, additional, Hayward, Nicholas K, additional, Albus, Margot, additional, Lerer, Bernard, additional, Maier, Wolfgang, additional, and Crow, Timothy J, additional

Published
1997
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13. Additional support for schizophrenia linkage on chromosomes 6 and 8: A multicenter study

Author

Wildenauer, Dieter B., primary, Schwab, Sibylle G., additional, Albus, Margot, additional, Hallmayer, Joachim, additional, Lerer, Bernard, additional, Maier, Wolfgang, additional, Blackwood, Douglas, additional, Muir, Walter, additional, St Clair, David, additional, Morris, Stewart, additional, Moises, Hans W., additional, Yang, Liu, additional, Kristbjarnarson, Helgi, additional, Helgason, Tomas, additional, Wiese, Claudia, additional, Collier, David A., additional, Holmans, Peter, additional, Daniels, Jo, additional, Rees, Mark, additional, Asherson, Philip, additional, Roberts, Queta, additional, Cardno, Alastair, additional, Arranz, Maria J., additional, Vallada, Homero, additional, Ball, David, additional, Kunugi, Hiroshi, additional, Murray, Robin M., additional, Powell, John F., additional, Nanko, Sin, additional, Sham, Pak, additional, Gill, Mike, additional, McGuffin, Peter, additional, Owen, Michael J., additional, Pulver, Ann E., additional, Antonarakis, Stylianos E., additional, Babb, Robert, additional, Blouin, Jean-Louis, additional, DeMarchi, Nicola, additional, Dombroski, Beth, additional, Housman, David, additional, Karayiorgou, Maria, additional, Ott, Jurg, additional, Kasch, Laura, additional, Kazazian, Haig, additional, Lasseter, Virginia K., additional, Loetscher, Erika, additional, Luebbert, Hermann, additional, Nestadt, Gerald, additional, Ton, Carl, additional, Wolyniec, Paula S., additional, Laurent, Claudine, additional, de Chaldee, Michel, additional, Thibaut, Florence, additional, Jay, Maurice, additional, Samolyk, Daniele, additional, Petit, Michel, additional, Campion, Dominique, additional, Mallet, Jacques, additional, Straub, Richard E., additional, MacLean, Charles J., additional, Easter, Stephen M., additional, O'Neill, F. Anthony, additional, Walsh, Dermot, additional, Kendler, Kenneth S., additional, Gejman, Pablo V., additional, Cao, Qiuhe, additional, Gershon, Elliot, additional, Badner, Judith, additional, Beshah, Ethiopia, additional, Zhang, Jing, additional, Riley, Brien P., additional, Rajagopalan, Swarnageetha, additional, Mogudi-Carter, Mpala, additional, Jenkins, Trefor, additional, Williamson, Robert, additional, DeLisi, Lynn E., additional, Garner, Chad, additional, Kelly, Mary, additional, LeDuc, Carrie, additional, Cardon, Lon, additional, Lichter, Jay, additional, Harris, Tim, additional, Loftus, Josephine, additional, Shields, Gail, additional, Comasi, Margarite, additional, Vita, Antonio, additional, Smith, Angela, additional, Dann, Jay, additional, Joslyn, Geoff, additional, Gurling, Hugh, additional, Kalsi, Gursharan, additional, Brynjolfsson, Jon, additional, Curtis, David, additional, Sigmundsson, Thordur, additional, Butler, Robert, additional, Read, Tim, additional, Murphy, Patrice, additional, Chen, Andrew Chih-Hui, additional, Petursson, Hannes, additional, Byerley, Bill, additional, Hoff, Mark, additional, Holik, John, additional, Coon, Hilary, additional, Levinson, Douglas F., additional, Nancarrow, Derek J., additional, Crowe, Raymond R., additional, Andreasen, Nancy, additional, Silverman, Jeremy M., additional, Mohs, Richard C., additional, Siever, Larry J., additional, Endicott, Jean, additional, Sharpe, Lawrence, additional, Walters, Marilyn K., additional, Lennon, David P., additional, Hayward, Nicholas K., additional, Sandkuijl, Lodewijk A., additional, Mowry, Bryan J., additional, Aschauer, Harald N., additional, Meszaros, Kurt, additional, Lenzinger, Elisabeth, additional, Fuchs, Karoline, additional, Heiden, Angela M., additional, Kruglyak, Leonid, additional, Daly, Mark J., additional, and Matise, Tara C., additional

Published
1996
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23. Schizophrenia susceptibility and chromosome 6p24-22.

Author

Mowry, Bryan J., Nancarrow, Derek J., Lennon, David P., Sandkuijl, Lodewijk A., Crowe, Raymond R., Silverman, Jeremy M., Mohs, Richard C., Siever, Larry J., Endicott, Jean, Sharpe, Lawrence, Walters, Marilyn K., Hayward, Nicholas K., and Levinson, Douglas F.

Published
1995
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