Research Interests

• Cloning of Disease Genes
• Transcription Maps
• Human Genetics

Research Activities

My laboratory is interested in the mechanisms of genetic diseases and the generation of gene maps.

• The protein product (CFTR) that is affected in cystic fibrosis (CF) is a chloride channel that is localized to the apical membrane of epithelial tissue. We are examining the routing of CFTR using heterologous expression systems and site-directed mutagenesis in order to obtain a better understanding of how mutations lead to disease.
• Shwachman syndrome is a recessive disorder associated with exocrine pancreatic insufficiency, hematological dysfunction and bone abnormalities. Molecular genetic studies are currently underway to identify the location of the affected gene, with the long-term goal of identifying the basic defect.

The Human Genome Project is accelerating the pace of the identification of disease genes. Efforts, including our own, are currently devoted to completing transcription maps to provide the resources to study the genetic deficiencies that map within given chromosomal regions. Two regions of current interest contain susceptibility genes for breast cancer (chromosome 20) and prostate cancer (chromosome 1).

Publications

Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GRB, Ethseham N, Betard C, Brewer CG, Roslin NM, Hudson TJ, Fujiwara TM, Morgan K, Durie PR, Rommens JM. Shwachman-Diamond syndrome with exocrine pancreatic dyfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am. J. Hum. Genet. 68: 1048-1054, 2001.

Tavtigian SV, Simard J, Teng DHF, Baumgard M, Bech A, Camp NJ, Carillo AR, Chen Y, Dayananth P, Desrochers M, Dumont M, Farnham JM, Frank D, Frye C, Ghaffari S, Gupte JS, Hu R, Iliev D, Janecki T, Kort EN, Laity KE, Leavitt A, Leblanc G, Morrison JM, Pederson A, Penn B, Peterson KT, Reid JE, Richards S, Schroeder M, Smith R, Snyder SC, Swedlund B, Swensen J, Thomas A, Tranchant M, Woodland AN, Labrie F., Skolnick MH, Neuhausen S, Rommens JM, Cannon-Albright LA. A candidate prostate cancer susceptibility gene at chromosome 17p. Nature Genet. 27: 172-180, 2001.

Van Oene M, Lukacs GL, Rommens JM. Cystic fibrosis mutations lead to carboxyl terminal fragments that highlight an early biogenesis step of the cystic fibrosis transmembrane conductance regulator. J. Biol. Chem. 275: 19577-19584, 2000.

Ginzberg H, Shin J, Ellis L, Goobie S, Morrison J, Corey M, Durie PR, Rommens JM. Segregation analysis in Shwachman-Diamond Syndrome: evidence for recessive inheritance. Am. J. Hum. Genet. 66: 1413-1416, 2000.

Goobie S, Morrison J, Ginzberg H, Ellis L, Corey M, Masuno M, Imaizumi K, Kuroki Y, Fujiwara TM, Morgan K, Durie PR, Rommens JM. Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. American Journal of Medical Genetics, 85: 171-174, 1999.

Roux AF, Rommens JM, Read L, Duncan AM, Cox DW. Physical and transcription map in the region 14q24.3: identification of six novel transcripts. Genomics, 43: 130-140, 1997.

Linsdell P, Tabcharani JA, Rommens JM, Hou YX, Chang XB, Tsui LC, Riordan JR, Hanrahan JW. Permeability of wild-type and mutant cystic fibrosis transmembrane conductance regulator chloride channels to polyatomic anions. Journal of Cell Biology, 110: 355-364, 1997.

Lei DC, Kunzelmann K, Koslowsky T, Yezzi MJ, Escobar LC, Xu Z, Ellison AR, Rommens JM, Tsui L-C, Tykocinski M, Gruenert DC. Episomal expression of wild-type CFTR corrects cAMP-dependent chloride transport in respiratory epithelial cells. Gene Therapy, 3: 427-436, 1996.

Totaro A, Rommens JM, Grifa A, Lunard C, Carella M, Huizenga J, Roetto A, Camaschella C, De Sandre G, Gasparini P. Hereditary Hemochromatosis: generation of a transcription map within a refined and extended map of HLA class I region. Genomics, 31(3):319-326, 1996.

more publications on PubMed

Intellectual Property

• Chromosome 13-Linked Breast Cancer Susceptibility Gene (licensed)
• Chromosome 1-linked Prostate Cancer Suscepibility Gene and Multi-site Tumour Suppressor (licensed)
• Cystic Fibrosis Gene and Mutations (US 6001588, US 5981178, US 5776677)
• Stable Propagation of Modified Full Length Cystic Fibrosis Transmembrane Conductance Regulator Protein cDNA in Heterologous Systems (US 5863770, US 6063913)
• Genetic Sequences and Proteins Related to Alzheimer's Disease (licensed)