Introduction to the Workshop
URLs Provided by Attendees

Abstracts

Mapping

Informatics

Sequencing

Instrumentation

Ethical, Legal, and Social Issues

Infrastructure

The electronic form of this document may be cited in the following style:
Human Genome Program, U.S. Department of Energy, DOE Human Genome Program Contractor-Grantee Workshop IV, 1994.

Abstracts scanned from text submitted for November 1994 DOE Human Genome Program Contractor-Grantee Workshop. Inaccuracies have not been corrected.

Gene Expression in Hydatidiform Mole

Rebecca Lobb, Cheryl Lemanski, Karen Denison, and Joe Gatewood
Genomics and Structural Biology Group; LS-2, MS 880; Los Alamos National Laboratory; Los Alamos, New Mexico 87545

Complete hydatidiform mole (CHM) is an unusual pregnancy of paternal genetic origin. The majority (90-95%) of CHM pregnancies result from fertilization by a single haploid sperm. Disomy is restored by duplication resulting in a 46, XX karyotype homozygous at all loci. CHM is characterized by complete absence of a fetus, excess trophoblastic growth, and the propensity to become invasive or malignant. Our historical interest in this tissue is based on the unusual genetic origin. We have hypothesized that an unusual chromatin organization in human sperm is responsible for programming paternal gene expression in early development. This hypothesis is being testing by determining the chromatin compartmentalization properties of genes expressed in this tissue. The current focus of this project is cDNA sequence sampling, and mapping and full length sequencing of selected cDNAs.

Homology comparisons indicate the majority of cDNAs with homology to known genes can be categorized as structural proteins, growth factors and receptors, maternal mitochondrial transcripts, and immune system proteins. The structural genes include laminin, keratin, actin, collagenase, and fibronectin. The immune system genes include beta-2-microglobulin, chaperonin, docking protein, tumor necrosis factor receptor, and HLA Class I light and heavy chains. The majority (>80%) of the cDNAs represent new genes. Over twenty cDNAs have been sequenced.

Research funded by U.S. Department of Energy under Contract W-7405-ENG-36.