UFD1L, a Developmentally Expressed Ubiquitination Gene, is Deleted in CATCH 22 Syndrome
Copyright policy )UFD1L, a Developmentally Expressed Ubiquitination Gene, is Deleted in CATCH 22 Syndrome
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.
DNA, Complementary, Chromosomes, Human, Pair 22, Molecular Sequence Data, Sequence Homology, Gene Expression, Chromosome Disorders, 612, Settore MED/03 - GENETICA MEDICA, Chromosome Aberration, Fluorescence, Chromosomes, Mice, Complementary, Animals, Humans, Northern, Amino Acid Sequence, In Situ Hybridization, In Situ Hybridization, Fluorescence, Chromosome Aberrations, Base Sequence, Sequence Homology, Amino Acid, Ubiquitin, Animal, Blotting, Protein, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Proteins, DNA, Syndrome, Blotting, Northern, Amino Acid, Adaptor Proteins, Vesicular Transport, Chromosome Disorder, Intercellular Signaling Peptides and Proteins, Pair 22, Gene Deletion, Human, Ubiquitins; Animals; Blotting, Northern; Humans; Chromosome Disorders; Gene Expression; In Situ Hybridization, Fluorescence; Mice; Amino Acid Sequence; Chromosome Mapping; Gene Deletion; DNA, Complementary; Chromosomes, Human, Pair 22; Base Sequence; Syndrome; Molecular Sequence Data; Chromosome Aberrations; Proteins; Sequence Homology, Amino Acid
DNA, Complementary, Chromosomes, Human, Pair 22, Molecular Sequence Data, Sequence Homology, Gene Expression, Chromosome Disorders, 612, Settore MED/03 - GENETICA MEDICA, Chromosome Aberration, Fluorescence, Chromosomes, Mice, Complementary, Animals, Humans, Northern, Amino Acid Sequence, In Situ Hybridization, In Situ Hybridization, Fluorescence, Chromosome Aberrations, Base Sequence, Sequence Homology, Amino Acid, Ubiquitin, Animal, Blotting, Protein, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Proteins, DNA, Syndrome, Blotting, Northern, Amino Acid, Adaptor Proteins, Vesicular Transport, Chromosome Disorder, Intercellular Signaling Peptides and Proteins, Pair 22, Gene Deletion, Human, Ubiquitins; Animals; Blotting, Northern; Humans; Chromosome Disorders; Gene Expression; In Situ Hybridization, Fluorescence; Mice; Amino Acid Sequence; Chromosome Mapping; Gene Deletion; DNA, Complementary; Chromosomes, Human, Pair 22; Base Sequence; Syndrome; Molecular Sequence Data; Chromosome Aberrations; Proteins; Sequence Homology, Amino Acid
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