Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms.
作者： Biaoyang Lin , Jamal Nasir , Michael A. Kalchman , Helen Mcdonald , Jutta Zeisler
DOI: 10.1016/0888-7543(95)80014-D
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摘要: Abstract We have previously cloned and characterized the murine homologue of Huntington disease (HD) gene shown that it maps to mouse chromosome 5 within a region conserved synteny with human 4p16.3. Here we present detailed comparison sequence putative promoter organization 5′ genomic ( Hdh ) HD genes encompassing first five exons. show in this these two share identical exon boundaries, but differentsize introns. Two dinucleotide (CT) one trinucleotide intronic polymorphism an CA were identified. Comparison 940-bp translation start site reveals highly (78.8% nucleotide identity) between from −56 −206 (of ). Neither nor typical TATA or CCAAT elements, both AP2 binding numerous potential Sp1 sites. The high identity for approximately 200 bp indicates sequences may play role regulating expression gene.
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