发明名称 Novel single nucleotide variation markers specific for hypoxia adaptation
摘要 <p>The present invention relates to a novel single nucleotide variations (SNVs) marker for hypoxia adaptive (adaptation to hypoxia) traits, and, more specifically, relates to an SNVs (single nucleotide variations) marker which is specific to hypoxia adaptive traits including variations in Lys39Met in the Egl nine homologue 1 (EGLN1) amino acid sequence and variations in Val663Ile and Cys794Arg in the endothelial PAS domain-containing protein 1 (EPAS1) amino acid sequence inherent to the snow leopard, which lives in high mountain areas due to hypoxia adaptation, and variations in Leu15Pro, Pro17Arg and Pro36Arg in the EGLN1 amino acid sequence inherent to the naked mole-rat, which similarly lives in the ground due to hypoxia adaptation; discovered by subjecting individuals of various species to an inter-species sequence comparative analysis (interspecific sequence comparison) of the amino acid sequences of EGLN1 and EPAS1, which are proteins associated with hypoxia. The SNVs marker according to the present invention provides genetic information relating to hypoxia adaptive traits in animals and thus can be widely used, for example in evolutionary studies relating to environmental adaptivity of animal species not to mention in the field of developing drugs from new candidates for hypoxia-related diseases.</p>
申请公布号 KR101480208(B1) 申请公布日期 2015.01.08
申请号 KR20120113514 申请日期 2012.10.12
申请人 发明人
分类号 C12Q1/68;G01N33/68 主分类号 C12Q1/68
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