# CHARACTERIZATION OF THE CHROMOSOME 3P14 3P21.1 REGION

> **NIH NIH R01** · UNIVERSITY OF COLORADO DENVER · 1994 · $186,354

## Abstract

One of the most interesting and disease related regions of the human genome
is contained in an area of approximately 20 million base pairs of DNA
encompassing bands 3pl4.2 to 3p2l.1 (fig. 1). Within this region is the
most common constitutive fragile site in the genome, the location of the
hereditary renal carcinoma 3;8 translocation, a putative tumor suppressor
gene, the site of the developmental Greig Polysyndactyly craniofacial
anomalies syndrome 3;7 translocation, as well as a 3;6 translocation
occurring in a family with hereditary hematologic malignancies.  The
density of these chromosomal landmarks associated with important biological
disorders makes this region especially amenable to a reverse genetic
approach for the purpose of isolating and characterizing those genes at or
near the sites of the chromosomal rearrangements.

Our current studies, in progress for little more than two years, have
resulted in the isolation and mapping of approximately 370 probes from
human chromosome 3, a partial pulsed-field map of the 3p14-21.1 region, and
identification and characterization of the Greig polysyndactyly 3;7
translocation. We have also obtained confirmatory evidence that the mouse
mutant extra-toes (Xt) is the homologue of the human Greig Syndrome,
thereby providing a model for the study of this disorder. This background
forms the basis for our proposed studies to molecularly clone the Greig
polysyndactyly t3;7 and hereditary renal cell carcinoma t3;8 translocation
breakpoints, and to identify and characterize the genes which are altered
as a result of these rearrangements.

## Key facts

- **NIH application ID:** 2198960
- **Project number:** 5R01HD023826-07
- **Recipient organization:** UNIVERSITY OF COLORADO DENVER
- **SAM.gov UEI:** MW8JHK6ZYEX8
- **Principal Investigator:** HARRY A. DRABKIN
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $186,354
- **Award type:** 5
- **Project period:** 1991-03-01 → 1995-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2198960

## Citation

> US National Institutes of Health, RePORTER application 2198960, CHARACTERIZATION OF THE CHROMOSOME 3P14 3P21.1 REGION (5R01HD023826-07). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2198960. Licensed CC0.

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