小鼠淡耳（ep）突变是人类赫尔曼斯基-普德拉克综合征的同源物。
The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
作者信息
Gardner J M, Wildenberg S C, Keiper N M, Novak E K, Rusiniak M E, Swank R T, Puri N, Finger J N, Hagiwara N, Lehman A L, Gales T L, Bayer M E, King R A, Brilliant M H
机构信息
The Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111, USA.
出版信息
Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9238-43. doi: 10.1073/pnas.94.17.9238.
Abstract
The recessive mutation at the pale ear (ep) locus on mouse chromosome 19 was found to be the homologue of human Hermansky-Pudlak syndrome (HPS). A positional cloning strategy using yeast artificial chromosomes spanning the HPS locus was used to identify the HPS gene and its murine counterpart. These genes and their predicted proteins are highly conserved at the nucleotide and amino acid levels. Sequence analysis of the mutant ep gene revealed the insertion of an intracisternal A particle element in a protein-coding 3' exon. Here we demonstrate that mice with the ep mutation exhibit abnormalities similar to human HPS patients in melanosomes and platelet-dense granules. These results establish an animal model of HPS and will facilitate biochemical and molecular analyses of the functions of this protein in the membranes of specialized intracellular organelles.
摘要
小鼠19号染色体上淡耳（ep）位点的隐性突变被发现是人类赫尔曼斯基-普德拉克综合征（HPS）的同源物。采用跨越HPS位点的酵母人工染色体的定位克隆策略来鉴定HPS基因及其小鼠对应物。这些基因及其预测的蛋白质在核苷酸和氨基酸水平上高度保守。对突变的ep基因的序列分析揭示了在一个蛋白质编码3'外显子中插入了一个脑池内A颗粒元件。在这里，我们证明具有ep突变的小鼠在黑素小体和血小板致密颗粒中表现出与人类HPS患者相似的异常。这些结果建立了HPS的动物模型，并将有助于对该蛋白质在特殊细胞内细胞器膜中的功能进行生化和分子分析。
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Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9238-43. doi: 10.1073/pnas.94.17.9238.
2
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本文引用的文献
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Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.小鼠淡耳（ep）与人类赫尔曼斯基-普德拉克综合征同源，且含有一个罕见的“AT-AC”内含子。
Hum Mol Genet. 1997 May;6(5):793-7. doi: 10.1093/hmg/6.5.793.
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Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence.来自相邻5'基因的血小板糖蛋白Ib（β）mRNA的可变表达，带有一个不完全的聚腺苷酸化信号序列。
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Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.一种细胞质细胞器疾病——赫尔曼斯基-普德拉克综合征相关基因的定位克隆
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Molecular basis of the pleiotropic phenotype of mice carrying the hypervariable yellow (Ahvy) mutation at the agouti locus.携带刺鼠基因座上高变黄色（Ahvy）突变的小鼠多效性表型的分子基础。
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Encyclopedia of the mouse genome V. Mouse chromosome 19.小鼠基因组百科全书第五卷。小鼠第19号染色体。
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Identification of the homologous beige and Chediak-Higashi syndrome genes.同源米色基因和切迪阿克-东综合征基因的鉴定。
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Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse.细微灰色（sut）小鼠的遗传性出血时间延长和血小板储存池缺陷
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