title: Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues.
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.
authors.affiliation: Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Langnaese
authors.forename: D U
authors.initials: DU
authors.lastname: Kloos
authors.forename: M
authors.initials: M
authors.lastname: Wehnert
authors.forename: B
authors.initials: B
authors.lastname: Seidel
authors.forename: P
authors.initials: P
authors.lastname: Wieacker
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000595:Amino Acid Sequence; D000818:Animals; D000951:Antigens, Neoplasm / Q000737:chemistry / Q000235:genetics*; D001921:Brain / Q000378:metabolism; D003001:Cloning, Molecular; D005091:Exons / Q000235:genetics*; D020869:Gene Expression Profiling; D005787:Gene Frequency; D005858:Germany; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007438:Introns / Q000235:genetics; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D051381:Rats; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid; D013737:Testis / Q000378:metabolism; D014421:Turkey; D014960:X Chromosome / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000951:Antigens, Neoplasm; C451414:MAGED2 protein, human