# GENETIC AND BIOCHEMICAL STUDIES OF STEROID SULFATASE

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 1994 · $193,442

## Abstract

The research outlined in this proposal is designed to enhance our
understanding of the structure and functional organization of the human sex
chromosomes.  The experiments described should clarify the evolutionary
origins of the X and Y chromosomes, and aspect of their role in sex
determination.  The regulation of gene expression on the X and Y through th
process of X inactivation will be studied which should provide insight into
general mechanisms involved in the control of development and may help
clarify the  pathogenesis of sex chromosome aneuploid disorders such as the
Turner syndrome and the Klinefelter syndrome.  Detailed mapping of this
region will contribute to the goals of the human genome initiative.  A grou
of promoter sequences which escape inactivation will be characterized and
the information derived may be of use in designing vectors for  gene therap
experiments.  Finally, the mechanisms which produce frequent deletions of
DNA from the X chromosome will be explored.  These studies should provide
insight into the cause of deletions in such human disorders as X-linked
ichthyosis, thalassemia, and muscular dystrophy

## Key facts

- **NIH application ID:** 2196881
- **Project number:** 5R01HD012178-16
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **SAM.gov UEI:** KMH5K9V7S518
- **Principal Investigator:** LARRY J. SHAPIRO
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $193,442
- **Award type:** 5
- **Project period:** 1978-08-01 → 1995-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2196881

## Citation

> US National Institutes of Health, RePORTER application 2196881, GENETIC AND BIOCHEMICAL STUDIES OF STEROID SULFATASE (5R01HD012178-16). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2196881. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*