# CHROMOSOMAL ORGANIZATION OF THE HUMAN PROCOLLAGEN GENES

> **NIH NIH R01** · MOUNT SINAI SCHOOL OF MEDICINE OF CUNY · 1990 · $205,473

## Abstract

The primary goal of this proposal is to establish the chromosomal
organization of the human procollagen genes.  Up to date, at least five
genetically distinct types of collagen have been identified:  (a) Type I
present mainly in skin, bones and tendons; (b) Type II major consituent of
cartilage; (c) Type III found together with Type I in lung, liver, skin and
vessels; and, (d) Types IV and V consituents of the basement membrane.  All
the different types are heterotrimers constituted of identical or similar
Alpha-chains which are synthesized as precursor molecules with N- and
C-propeptides (procollagens).  The different Alpha-chains contain
approximately 1000 residues and have a similar primary structure with the
repeated amino acidic triplet -Gly, X, Y.  Structural and functional
features suggest that these nine (or more) genes may have evolved by
multiple duplication from a common ancestral unit.  These proteins are
involved in human connective tissue inherited diseases such as:
osteogenesis imperfecta, chondrodystrophies Marfan and Ehlers-Danlos
syndrome.  It is, therefore, of importance to establish the chromosomal
organization of these genes, their linkage at the molecular level, and
their association with other sequences in order to have a better
understanding of their evolution, ontogenesis, tissue-specific distribution
and expression in normal and pathological states.  To achieve this goal we
propose first to localize the procollagen genes using cloned cDNA specific
for the proAlpha-chains of the different types.  Second, to isolate from
phage libraries collagen-like genes using cDNA and genomic probes under
relaxed conditions of hybridization.  Third, to establish the linkage among
the different genes within a given cluster.  Fourth, to characterize the
genes with respect to their transcriptional boundaries, to flanking
regulatory signals to their association with other genomic sequences which
may play a role in their expression.

## Key facts

- **NIH application ID:** 3158683
- **Project number:** 5R01AR038648-05
- **Recipient organization:** MOUNT SINAI SCHOOL OF MEDICINE OF CUNY
- **Principal Investigator:** Francesco B Ramirez
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1990
- **Award amount:** $205,473
- **Award type:** 5
- **Project period:** 1989-07-01 → 1991-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/3158683

## Citation

> US National Institutes of Health, RePORTER application 3158683, CHROMOSOMAL ORGANIZATION OF THE HUMAN PROCOLLAGEN GENES (5R01AR038648-05). Retrieved via MORVS 2026-10-24 from https://api.morvs.ai/grant/nih/3158683. Licensed CC0.

---

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