THE SCURFY MOUSE MUTANT HAS PREVIOUSLY UNRECOGNIZED HEMATOLOGICAL ABNORMALITIES AND RESEMBLES WISKOTT-ALDRICH SYNDROME
THE SCURFY MOUSE MUTANT HAS PREVIOUSLY UNRECOGNIZED HEMATOLOGICAL ABNORMALITIES AND RESEMBLES WISKOTT-ALDRICH SYNDROME
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DOI：
10.1073/pnas.87.7.2433
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发表时间：
1990-04-01
影响因子：
11.1
通讯作者：
WRIGHT, E
中科院分区：
文献类型：
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作者：
LYON, MF;PETERS, J;WRIGHT, E
小鼠的X染色体连锁皮屑（sf）突变体通过皮肤的鳞状来识别，并导致受影响的雄性在约3 - 4周龄时死亡。考虑到已知的人鼠X染色体同源性，促使血液学研究，这表明血液是高度异常的。血小板和红细胞计数都减少，并随着疾病的进展相对于正常值逐渐降低。有胃肠道出血，大多数动物似乎死于严重贫血。相反，白细胞计数持续升高。一些动物显示出感染的迹象，但尚不清楚是否存在免疫缺陷。其他特征包括鳞状皮肤和明显减少的皮肤横向生长，结膜炎和腹泻在一些动物。该突变体类似于人类的Wiskott-Aldrich综合征，其特征为血小板减少症、湿疹、腹泻和免疫缺陷。人类和小鼠的基因位点位于X染色体的同源片段中，尽管相对于其他基因位点，它们的位置显然有些不同。皮屑与Wiskott-Aldrich综合征的不同之处在于，皮屑男性始终性腺功能减退。
The X chromosome-linked scurfy (sf) mutant of the mouse is recognized by the scaliness of the skin from which the name is derived and results in death of affected males at about 3-4 weeks of age. Consideration of known man-mouse homologies of the X chromosome prompted hematological studies, which have shown that the blood is highly abnormal. The platelet and erythrocyte counts are both reduced and become progressively lower relative to normal as the disease progresses. There is gastrointestinal bleeding, and most animals appear to die of severe anemia. By contrast, the leukocyte count is consistnetly raised. Some animals showed signs of infection but it is not yet clear whether there is immunodeficiency. Other features include the scaly skin and apparently reduced lateral growth of the skin, conjunctivitis, and diarrhea in some animals. The mutant resembles Wiskott-Aldrich syndrome in man, which is characterized by thrombocytopenia, eczema, diarrhea, and immunodeficiency. The loci of the human and mouse genes lie in homologous segments of the X chromsome, although apparently in somewhat different positions relative to other gene loci. Scurfy differs from Wiskott-Aldrich syndrome in that scurfy males are consistently hypogonadal.