Alan F. Scott, Ph.D.
Associate Professor, Department of Medicine
Director, Genetic Resources Core Facility
B.S., University of Connecticut, 1968
M.S., University of Connecticut, 1970
Ph.D., University of Connecticut, 1975
My current interests are focused on bringing technologies to Hopkins investigators that enable them to probe the structure and function of the human genome more effectively and economically. I have helped establish DNA sequencing, synthesis, and microsatellite genotyping activities both at the medical school and at the Center for Inherited Disease Research. Currently, we are providing high throughput genotypiing for the NHLBI and CIDR. Through the CCDD, I am involved in a study of isolated cleft lip and palate and isolated craniosynostosis. That project uses genotyping arrays to look for genetic linkage or association between SNPs in over 200 candidates genes. I am also interested in the problem of gene annotation so that functional information can be captured and presented in a way that will help with the discovery of the underlying bases of common disease. As "Genes" editor for OMIM I attempt to find genes reported in the biomedical literature that are either new or for which additional information is available to help determine their possible function. Many of the genes "discovered" in this way are being used in the SNP study described above.
- Genetic/genomic technology
- SNP association studies for complex traits
- Genome annotation
Center for Craniofacial Development and Disorders (CCDD)
Center for Inherited Disease Research (CIDR)
Online Mendelian Inheritance in Man (OMIM)
NHLBI Resequencing and Genotyping Service
JHU Genetic Resources Core Facility
- Preceptor, Predoctoral Training Program in Human Genetics
Recognition and Leadership Roles:
- Director, Genetic Resources Core Facility
- Editor, Molecular and Cellular Biology
- American Society of Human Genetics
- Human Gene Nomenclature Committee
- Member, MRC DNA Banking Steering Committee
- Scott AF, Bunn HF, Brush AH: Functional aspects of hemoglobin in the mammals. J Molec Evol 8:311-316, 1976. Abstract
- Scott AF, Phillips JA, Migeon BR: DNA restriction endonuclease analysis for the localization of the human beta and delta globin genes on chromosome 11. Proc Natl Acad Sci 76:4563-4565, 1979. Abstract
- Scott AF, Heath P, Trusko S, Boyer SH, Prass W, Goodman M, Czelusniak J, Chang L-YE, Slightom JL: The sequence of the gorilla fetal globin genes: Evidence for multiple gene conversions in human evolution. Mol Biol Evol 1:371-389, 1984. Abstract
- Scott AF, Schmeckpeper BJ, Abdelrazik M, Thiesen-Comey C, O'Hara B, Rossiter JP, Cooley T, Heath P, Smith KD, Margolet L: Origin of the human L1 elements: proposed progenitor genes deduced from a consensus DNA sequence. Genomics 1:113-125, 1987. Abstract
- Dombroski BA, Mathias SL, Nanthakumar E, Scott AF,Kazazian HH: Isolation of an active human transposable element. Science 254:1805-1808, 1991. Abstract
- Mathias SL, Scott AF: Promoter binding proteins of an active human L1 retrotransposon. Biochem Biophys Res Comm 191:625-632, 1993. Abstract
- Scott AF, Elizaga A, Morrell J, Bergen A, Penno MB: Characterization of a gene coamplified with Ki-ras in Y1 murine adrenal carcinoma cells that codes for a putative membrane protein. Genomics 20:227-230, 1994. Abstract
- Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao J, Charnas LR, Jackson CE, Jaye M: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 8: 275-279, 1994. Abstract
- Scott, A.F., Amberger, J.A., Brylawski, B. and V.A. McKusick, 1999. Online Mendelian Inheritance in Man. In, Bioinformatics: Databases and Systems, S.I. Ketovskty, ed. Kluwer Press.
- Hamosh A., Scott, A.F., Amberger J, Bocchini C., Valle D., and V.A. McKusick, 2002. Online Mendelian Inheritance in Man (OMIM), a knowledge base of human genes and genetic disorders. Nucleic Acids Res. 30:52-55
- Ingersoll, R.G., Paznekas, W.A., Tran, A.K., Scott, A.F., Jiang, G. and E.W. Jabs, 2001. Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations. Cytogenetics and Cell Genetics 94:121-126
- Zieger JS, Beaty TH, Hetmanski JB, Wang H, Scott AF, Kasch L, Raymond G, Jabs EW, and C. VanderKolk, 2002. Genetic and environmental risk factors for sagittal crainosynostosis. J Craniofacial Surgery 13:602-606.
- Fallin MD, Hetmanski JB, Park J, Scott AF, Ingersoll R, Fuernkranz HA, McIntosh I, and Beaty TH. 2003. Family-based analysis of Msx1 haplotypes for association with oral clefts. Genetic Epidemiology 25:168-175.
- Beaty TH, Fallin MD, Hetmanski JB, McIntosh I, and Scott AF, 2005 Haplotype Diversity in 11 Candidate Genes across 4 populations. Genetics 171:259-267
- Park JW, Beaty TH, Boyce P, Scott AF and McIntosh I. 2005. Comparing SNP genotypes among whole genome amplification methods and sources of biological sample. Clinical Chem. 51:1520-1523.
McKusick VA, Antonarakis SE, Francomano CA, Hurko O, Scott AF, Smith M, Valle DV, et al: Mendelian Inheritance in Man Vol. 12. Johns Hopkins Press, 1998.
Scott AF, Amberger JA, Brylawski B, McKusick VA/SI Letovsky, ed: Online Mendelian Inheritance in Man. Kluwer Press, , 1999.
Alan F Scott, Ph.D.
Johns Hopkins University School of Medicine
Institute of Genetic Medicine
600 North Wolfe Street
Blalock Building, Room 1033
Baltimore, MD 21287
Phone: (410) 955-2553