Human Molecular Genetics, Vol 8, 2387-2396, Copyright © 1999 by Oxford University Press
N Blagitko, U Schulz, AA Schinzel, HH Ropers and VM Kalscheuer
We describe a novel imprinted gene, gamma 2-COP (nonclathrincoatprotein),
identified in a search for expressed sequences in human chromosome 7q32
where the paternally expressed MEST gene is located. gamma 2-COP contains
24 exons and spans >50 kb of genomic DNA. Like MEST, gamma 2-COP is
ubiquitously transcribed in fetal and adult tissues. In fetal tissues,
including skeletal muscle, skin, kidney, adrenal, placenta, intestine,
lung, chorionic plate and amnion, gamma 2-COP is imprinted and expressed
from the paternal allele. In contrast to the monoallelic expression
observed in these fetal tissues, biallelic expression was evident in fetal
brain and liver and in adult peripheral blood. Biallelic expression in
blood is supported by the demonstration of gamma 2-COP transcripts in
lymphoblastoid cell lines with maternal uniparental disomy 7. Absence of
paternal gamma 2-COP transcripts during embryonic development may
contribute to Silver-Russell syndrome. However, on mutation scanning the
only gamma 2-COP mutation detected was maternally derived. Amino acid
comparison of gamma2-COP protein revealed close relation to gamma- COP, a
subunit of the coatomer complex COPI, suggesting a role of gamma2-COP in
cellular vesicle traffic. The existence of distinct coatomer complexes
could be the basis for the functional heterogeneity of COPI vesicles in
retrograde and anterograde transport and/or in cargo selection. Together,
gamma 2-COP and MEST constitute a novel imprinting cluster in the human
genome that may contain other, as yet unknown, imprinted genes.
ARTICLES
gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome
Max-Planck-Institut f#r Molekulare Genetik, Ihnestrasse 73, D-14195 Berlin (Dahlem), Germany,
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