Abstract
In a search for genes involved in X-linked mental retardation we have analyzed the expression pattern and genomic structure of human MAGED2. This gene is a member of a new defined MAGE-D cluster in Xp11.2, a hot spot for X-linked mental retardation. Rat and mouse orthologues have been isolated. In contrast to the genes of the MAGE-A, MAGE- B and MAGE-C clusters, MAGED2 is expressed ubiquitously. High expression was detected in specific brain regions and in the interstitium of testes. Five SNPs in the coding region of human MAGED2 were characterized and their allele frequencies determined in a German and Turkish population.
Copyright 2002 S. Karger AG, Basel
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing
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Amino Acid Sequence
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Animals
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Antigens, Neoplasm / chemistry
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Antigens, Neoplasm / genetics*
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Brain / metabolism
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Cloning, Molecular
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Exons / genetics*
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Gene Expression Profiling*
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Gene Frequency
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Germany
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Haplotypes / genetics
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Humans
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Intellectual Disability / genetics
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Introns / genetics
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Male
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Mice
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Molecular Sequence Data
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Polymorphism, Single Nucleotide / genetics*
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Rats
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Sequence Alignment
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Sequence Homology, Nucleic Acid
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Testis / metabolism
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Turkey
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X Chromosome / genetics
Substances
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Adaptor Proteins, Signal Transducing
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Antigens, Neoplasm
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MAGED2 protein, human
Associated data
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GENBANK/AJ277114
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GENBANK/AJ293617
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GENBANK/AJ293618