Localization of the human fibromodulin gene (FMOD) to chromosome 1q32 and completion of the cDNA sequence
- McGill Univ., Montreal (Canada); and others
This report describes the cloning of the 3{prime}-untranslated region of the human fibromodulin cDNA and its use to map the gene. For somatic cell hybrids, the generation of the PCR product was concordant with the presence of chromosome 1 and discordant with the presence of all other chromosomes, confirming that the fibromodulin gene is located within region q32 of chromosome 1. The physical mapping of genes is a critical step in the process of identifying which genes may be responsible for various inherited disorders. Specifically, the mapping of the fibromodulin gene now provides the information necessary to evaluate its potential role in genetic disorders of connective tissues. The analysis of previously reported diseases mapped to chromosome 1 reveals two genes located in the proximity of the fibromodulin locus. These are Usher syndrome type II, a recessive disorder characterized by hearing loss and retinitis pigmentosa, and Van der Woude syndrome, a dominant condition associated with abnormalities such as cleft lip and palate and hyperdontia. The genes for both of these disorders have been projected to be localized to 1q32 of a physical map that integrates available genetic linkage and physical data. However, it seems improbable that either of these disorders, exhibiting restricted tissue involvement, could be linked to the fibromodulin gene, given the wide tissue distribution of the encoded proteoglycan, although it remains possible that the relative importance of the quantity and function of the proteoglycan may avry between tissues. 11 refs., 1 fig.
- OSTI ID:
- 183712
- Journal Information:
- Genomics, Vol. 23, Issue 3; Other Information: PBD: Oct 1994
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
GENES
GENETIC MAPPING
DNA SEQUENCING
DNA-CLONING
TISSUE DISTRIBUTION
HUMAN CHROMOSOME 1
PROTEINS
SOMATIC CELLS
HYBRIDIZATION
CONNECTIVE TISSUE
DISEASES
HEREDITARY DISEASES
ETIOLOGY
POLYMERASE CHAIN REACTION
OLIGONUCLEOTIDES
MESSENGER-RNA
DNA HYBRIDIZATION
FLUORESCENCE