Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130
- Brigham and Women`s Hospital and Harvard Medical School, Boston, MA (United States)
- Harvard Medical School and Howard Hughes Medical Institute, Boston, MA (United States); and others
The chicken extracellular matrix glycoprotein ES/130 is necessary for epithelial-mesenchymal transformation in the developing hear and is also expressed in noncardiac chicken tissues such as limb and notochord. We have identified hES, the human homology of chicken ES/130. Fluorescence in situ hybridization analysis (FISH) localizes hES to human chromosome 20p11.2-p12. FISH analyses of individuals with 20p12 deletions and affected by Alagille syndrome exclude hES as a candidate gene for this disorder. Reverse transcriptase-polymerase chain reaction studies reveal that hES is expressed in both fetal and adult human tissues and that hES expression in the left ventricle is increased in the failing adult heart. Further studies will evaluate how hES mutations may relate to congenital human cardiac and skeletal anomalies as well as cardiac remodeling in the adult. 16 refs., 2 figs.
- OSTI ID:
- 466007
- Journal Information:
- Genomics, Vol. 35, Issue 3; Other Information: PBD: 1 Aug 1996
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
GLYCOPROTEINS
GENETIC MAPPING
GENE MUTATIONS
GENE REGULATION
TISSUE DISTRIBUTION
DNA-CLONING
DNA SEQUENCING
TRANSCRIPTION
HEART
ONTOGENESIS
CONGENITAL MALFORMATIONS
MAN
HEREDITARY DISEASES
CARDIOVASCULAR DISEASES
HUMAN CHROMOSOMES
CHROMOSOMAL ABERRATIONS
CHICKENS
FLUORESCENCE
IN-SITU HYBRIDIZATION
POLYMERASE CHAIN REACTION