UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome
| Autor: | Guglielmo Scarlato, Silvia K. Nicolis, Francesca Amati, Giuseppe Calabrese, Aldo Mari, Giuseppe Novelli, Sergio Ottolenghi, Antonio Pizzuti, Vincenzo Silani, Antonia Ratti, Bruno Dallapiccola, Bruno Marino |
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| Rok vydání: | 1997 |
| Předmět: |
Chromosomes
Human Pair 22 Sequence Homology Gene Expression Chromosome Disorders Hemizygosity Homology (biology) Mice Complementary DiGeorge syndrome Gene expression Northern In Situ Hybridization Genetics (clinical) In Situ Hybridization Fluorescence Genetics Blotting Intracellular Signaling Peptides and Proteins Chromosome Mapping General Medicine Syndrome Amino Acid Intercellular Signaling Peptides and Proteins Human DNA Complementary Molecular Sequence Data Locus (genetics) Biology Fluorescence Chromosomes Gene mapping medicine Animals Humans Amino Acid Sequence Molecular Biology Gene Ubiquitins Chromosome Aberrations Base Sequence Sequence Homology Amino Acid Proteins DNA medicine.disease Blotting Northern Fusion protein Adaptor Proteins Vesicular Transport Settore MED/03 - Genetica Medica Pair 22 Gene Deletion |
| Zdroj: | Human molecular genetics. 6(2) |
| ISSN: | 0964-6906 |
| Popis: | The CATCH 22 acronym outlines the main clinical features of 22q11.2 deletions (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia), usually found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. Hemizygosity of this region may also be the cause of over 100 different clinical signs. The CATCH 22 locus maps within a 1.5 Mb region, which encompasses several genes. However, no single defect in 22q11.2 hemizygous patients can be ascribed to any gene so far isolated from the critical region of deletion. We have identified a gene in the CATCH 22 critical region, whose functional features and tissue-specific expression suggest a distinct role in embryogenesis. This gene, UFD1L, encodes the human homolog of the yeast ubiquitin fusion degradation 1 protein (UFD1p), involved in the degradation of ubiquitin fusion proteins. Cloning and characterization of the murine homolog (Ufd1l) showed it to be expressed during embryogenesis in the eyes and in the linear ear primordia. These data suggest that the proteolytic pathway that recognizes ubiquitin fusion proteins for degradation is conserved in vertebrates and that the UFD1L gene hemizygosity is the cause of some of the CATCH 22-associated developmental defects. |
| Databáze: | OpenAIRE |
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