# HERITABLE DISEASES OF CONNECTIVE TISSUE

> **NIH NIH R01** · CORNELL UNIVERSITY · 1991 · $209,981

## Abstract

This is a study of structural and metabolic defects in procollagen
in genetic diseases of connective tissues.  Each simple inherited
defect in a procollagen gene is a unique opportunity to study one
or more steps in the metabolism of procollagen.  Abnormalities in
the structure and metabolism of procollagen will be identified and
characterized in ascorbate stimulated post-confluent cultures of
skin and tendon fibroblasts, and in collagens and procollagens
extracted from affected tissues.  We will study the effects of each
mutation on collagen synthesis, post-translational modification,
secretion, extracellular processing of procollagen to collagen, and
covalent cross-linking of collagen within fibrils.  The initial
studies will utilize pulse chase experiments with cultured
fibroblasts from humans and domestic animals with various forms of
the Ehlers-Danlos syndrome (EDS), Marfans syndrome, and
osteogenesis imperfect (OI) (J. Biol> Chem. 261:10006, 1986).  The
radiolabeled and extracted proteins will be separated and
characterized with liquid chromatography, SDS-PAGE, peptide
mapping, amino acid analysis, CD analysis and by partial enzymatic
degradation at different temperatures.  These studies will serve
to identify primary and secondary effects of each mutation of
different types of procollagen, and identify those mutations that
result in regulatory defects that affect the transcription of
procollagen genes.  The date on both the primary structural and
metabolic defects in procollagen chains will be used by
laboratories of molecular genetics to study the mutation in
procollagen genes.  At the same time these data will be correlated
with analyses of the effects of the structural and metabolic
abnormalities on the thermal stability, secretion, and processing
of procollagens, and on the deposition and cross-linking of
collagens within fibrils.

## Key facts

- **NIH application ID:** 3155144
- **Project number:** 5R01AR020793-11
- **Recipient organization:** CORNELL UNIVERSITY
- **SAM.gov UEI:** G56PUALJ3KT5
- **Principal Investigator:** RONALD R MINOR
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1991
- **Award amount:** $209,981
- **Award type:** 5
- **Project period:** 1979-04-01 → 1993-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/3155144

## Citation

> US National Institutes of Health, RePORTER application 3155144, HERITABLE DISEASES OF CONNECTIVE TISSUE (5R01AR020793-11). Retrieved via MORVS 2026-10-24 from https://api.morvs.ai/grant/nih/3155144. Licensed CC0.

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