markboguski.net

Home   Education   Employment   Publications   Presentations   Boards   Teaching   Awards
 

Genes & Disease 

Large-scale analyses and methods

  • Hunting for Genes in Computer Data Bases (1995) |PubMed|PDF|  The consilience of computational biology and the World Wide Web created a new research paradigm in molecular medicine.
  • Point Mutagenesis of Positively Charged Amino Acids of Cholesteryl Ester Transfer Protein: Conserved Residues within the Lipid Transfer/Lipopolysaccharide Binding Protein Gene Family Essential for Function (1995) |PubMed|PDF|
  • Yeast Genes and Human Disease (1996) |PubMed|PDF|
  • Positionally Cloned Human Disease Genes: Patterns of Evolutionary Conservation and Functional Motifs (1997) |PubMed|PDF|
  • Classical Oncogenes and Tumor Suppressor Genes: A Comparative Genomics Perspective (2000) |PubMed|PDF|
  • A Survey of Human Disease Gene Counterparts in the Drosophila Genome (2000) |PubMed|PDF|

Studies on individual genes

  • The NF1 Locus Encodes a Protein Functionally Related to Mammalian GAP and Yeast Ira Proteins (1990) |PubMed|PDF|  While a postdoctoral fellow at NIH, I made the startling observation that the product of the recently-cloned human gene for type 1 Neurofibromatosis (NF1) was probably a GTPase-activating protein (GAP) and therefore that the underlying pathophysiology of neurofibromatosis involved aberrant regulation of the ras pathway.  This functional prediction was made on the basis of database searching and sequence alignments that showed NF1 to be evolutionarily-related (homologous) to two yeast genes, IRA1 and IRA2.  Complementation experiments in ira1- and ira2- mutants, reported in this paper, proved that NF1 encoded a functional equivalent of rasGAP in yeast.
  • cDNA Cloning of the Type 1 Neurofibromatosis Gene: Complete Sequence of the NF1 Gene Product (1991) |PubMed|PDF|
  • Analysis of the Neurofibromatosis Type 1 (NF1) GAP-Related Domain by Site-Directed Mutagenesis (1993) |PubMed|PDF|
  • Neurofibromatosis Type 1 Gene Product (Neurofibromin) Associates with Microtubules (1993) |PubMed|PDF|
  • Identification of FAP Locus Genes from Chromosome 5q21 (1991) |PubMed|PDF|
  • MRS6--Yeast Homologue of the Choroideraemia Gene (1993) |PubMed|PDF|  Choroidermia is a disease of blindness so it was startling to find a related gene in a single-celled organism, used in baking and brewing, that has no eyes!  However, like NF1 above, this observation in yeast pointed to dysregulation of evolutionarily-conserved signaling pathways as a basis for many human diseases including cancer.
  • Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1 (1997) |PubMed|PDF|
  • A Transcript Map for the 2.8-Mb Region Containing the Multiple Endocrine Neoplasia Type 1 Locus (1997) |PubMed|PDF|
  • A 2.8-Mb Clone Contig of the Multiple Endocrine Neoplasia Type 1 (MEN1) Region at 11q13 (1997) |PubMed|PDF|
  • Eighteen New Polymorphic Markers in the Multiple Endocrine Neoplasia Type 1 (MEN1) Region (1997) |PubMed|PDF|
  • Identification and Characterization of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene (1998) |PubMed|PDF|
  • Mutations in the Gene Encoding Krit1, a Krev-1/Rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1) (1999) |PubMed|PDF|
  • Narrowing the Critical Interval and Screening Candidates for CCM1 a Gene for Familial Cerebral Cavernous Malformations (1997) |PubMed|PDF|

Home   Education   Employment   Publications   Presentations   Boards   Teaching   Awards

  

 

From the New England Journal of Medicine (1995)

 

 

 

 

Appearance of the retina in a patient with choroideremia.

Images of yeast (Saccharomyces cerevisiae)

 
 

 

© Dr. Mark S. Boguski, All rights reserved