Abstract
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 inner 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.
| Original language | English |
|---|---|
| Pages (from-to) | 259-265 |
| Number of pages | 7 |
| Journal | Human Molecular Genetics |
| Volume | 6 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 1997 |
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ASJC Scopus subject areas
- Genetics
Cite this
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. / Pizzuti, Antonio; Novelli, Giuseppe; Ratti, Antonia; Amati, Francesca; Mari, Aldo; Calabrese, Giuseppe; Nicolis, Silvia; Silani, Vincenzo; Marino, Bruno; Scarlato, Guglielmo; Ottolenghi, Sergio; Dallapiccola, Bruno.
In: Human Molecular Genetics, Vol. 6, No. 2, 02.1997, p. 259-265.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome
AU - Pizzuti, Antonio
AU - Novelli, Giuseppe
AU - Ratti, Antonia
AU - Amati, Francesca
AU - Mari, Aldo
AU - Calabrese, Giuseppe
AU - Nicolis, Silvia
AU - Silani, Vincenzo
AU - Marino, Bruno
AU - Scarlato, Guglielmo
AU - Ottolenghi, Sergio
AU - Dallapiccola, Bruno
PY - 1997/2
Y1 - 1997/2
N2 - 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 inner 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.
AB - 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 inner 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.
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U2 - 10.1093/hmg/6.2.259
DO - 10.1093/hmg/6.2.259
M3 - Article
VL - 6
SP - 259
EP - 265
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 2
ER -