Abstract

The long range goal of this proposal continues to be the mapping of human genes (functional loci) to specific chromosomes, regions of chromosomes and high resolution gene maps. The genes we have chosen to map play a significant role in human health and development. For this application, we have identified over 1,100 genes with sequences in databases that have not been mapped within the human genome. We will develop STSs from these sequences and map them to specific chromosomes and regions of chromosomes using our well-characterized and successful cell hybrid panels. After these gene markers have been mapped, primers will be sent to the MIT Center for Genome Research and the Iowa Cooperative Human Linkage Center for incorporation with their physical and gene linkage maps, respectively. An additional goal will be to continue mapping 75-100 human genes/year associated with disease and notable biological features that are requested by our collaborators. These genes will also be candidates for generating STSs from their sequences and incorporating them into the developing physical and linkage maps. The significance of this proposal is that (1) large numbers of human genes necessary for normal human biology will be mapped, (2) human gene sequences will be located in the genome at a specific site, (3) this number of mapped human genes will increase the resolution and completeness of the MIT and Iowa Center maps by about 10%, (4) these gene markers will add a significant biological feature to the developing physical and linkage maps that are being constructed with random genome markers, and (5) these additional mapped gene markers will help characterize, diagnose and predict genetic disease.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project (R01)
Project #
2R01HG000333-22
Application #
2208739
Study Section
Genome Study Section (GNM)
Project Start
1976-06-01
Project End
1997-05-31
Budget Start
1994-08-01
Budget End
1995-05-31
Support Year
22
Fiscal Year
1994
Total Cost
Indirect Cost

  Institution

Name
Roswell Park Cancer Institute Corp
Department
Type
DUNS #
City
Buffalo
State
NY
Country
United States
Zip Code
14263

  Publications

Penziner, Elizabeth; Williams, Janet K; Erwin, Cheryl et al. (2008) Perceptions of discrimination among persons who have undergone predictive testing for Huntington's disease. Am J Med Genet B Neuropsychiatr Genet 147:320-5
Zhang, J; Qin, S; Sait, S N et al. (2001) The pericentromeric region of human chromosome 11: evidence for a chromosome-specific duplication. Cytogenet Cell Genet 94:137-41
Scott, I C; Clark, T G; Takahara, K et al. (1999) Assignment of TLL1 and TLL2, which encode human BMP-1/Tolloid-related metalloproteases, to chromosomes 4q32-->q33 and 10q23-->q24 and assignment of murine Tll2 to chromosome 19. Cytogenet Cell Genet 86:64-5
Weber, T K; Conroy, J; Keitz, B et al. (1999) Genome-wide allelotyping indicates increased loss of heterozygosity on 9p and 14q in early age of onset colorectal cancer. Cytogenet Cell Genet 86:142-7
Higgins, M J; Day, C D; Smilinich, N J et al. (1998) Contig maps and genomic sequencing identify candidate genes in the usher 1C locus. Genome Res 8:57-68
Cooper, P R; Smilinich, N J; Day, C D et al. (1998) Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain. Genomics 49:38-51
Varon, R; Vissinga, C; Platzer, M et al. (1998) Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93:467-76
Stumpo, D J; Eddy Jr, R L; Haley, L L et al. (1998) Promoter sequence, expression, and fine chromosomal mapping of the human gene (MLP) encoding the MARCKS-like protein: identification of neighboring and linked polymorphic loci for MLP and MACS and use in the evaluation of human neural tube defects. Genomics 49:253-64
Watson Jr, B; Nowak, N J; Myracle, A D et al. (1997) The human angiotensinase C gene (HUMPCP) maps to 11q14 within 700 kb of D11S901: a candidate gene for essential hypertension. Genomics 44:365-7
Crider-Miller, S J; Reid, L H; Higgins, M J et al. (1997) Novel transcribed sequences within the BWS/WT2 region in 11p15.5: tissue-specific expression correlates with cancer type. Genomics 46:355-63

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