Human Molecular Genetics, Vol 6, 259-265, Copyright © 1997 by Oxford University Press
A Pizzuti, G Novelli, A Ratti, F Amati, A Mari, G Calabrese, S Nicolis, V Silani, B Marino, G Scarlato, S Ottolenghi and B Dallapiccola
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.
ARTICLES
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome
Istituto di Neurologia, Universita di Milano, Italy.
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