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  gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome

Blagitko, N., Schulz, U., Schinzel, A. A., Ropers, H. H., & Kalscheuer, V. M. (1999). gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. Hum Mol Genet, 8(13), 2387-96.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-E041-7 Version Permalink: http://hdl.handle.net/21.11116/0000-0002-E042-6
Genre: Journal Article

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 Creators:
Blagitko, N.1, Author
Schulz, U.1, Author
Schinzel, A. A.1, Author
Ropers, H. H.1, Author
Kalscheuer, V. M.1, Author
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1Max Planck Society, ou_persistent13              

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Free keywords: Amino Acid Sequence Base Sequence Blotting, Northern Carrier Proteins/*genetics/isolation & purification *Chromosomes, Human, Pair 7 Coat Protein Complex I/*genetics Coatomer Protein DNA Mutational Analysis DNA Probes Dwarfism/genetics Gene Expression *Genomic Imprinting Growth Disorders/genetics Humans Molecular Sequence Data Organ Specificity Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Proteins/genetics
 Abstract: 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.

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 Dates: 1999
 Publication Status: Published in print
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 Rev. Method: -
 Identifiers: Other: 10556286
ISSN: 0964-6906 (Print) 0964-6906 (Linking)
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Title: Hum Mol Genet
  Alternative Title : Human molecular genetics
Source Genre: Journal
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Pages: - Volume / Issue: 8 (13) Sequence Number: - Start / End Page: 2387 - 96 Identifier: -