Shiflett Shelly L, Kaplan Jerry, Ward Diane McVey
Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Pigment Cell Res. 2002 Aug;15(4):251-7. doi: 10.1034/j.1600-0749.2002.02038.x.
Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder characterized by severe immunologic defects including recurrent bacterial infections, impaired chemotaxis and abnormal natural killer (NK) cell function. Patients with this syndrome exhibit other symptoms such as an associated lymphoproliferative syndrome, bleeding tendencies, partial albinism and peripheral neuropathies. The classic diagnostic feature of CHS is the presence of huge lysosomes and cytoplasmic granules within cells. Similar defects are found in other mammals, the most well studied being the beige mouse and Aleutian mink. A positional cloning approach resulted in the identification of the Beige gene on chromosome 13 in mice and the CHS1/LYST gene on chromosome 1 in humans. The protein encoded by this gene is 3801 amino acids and is highly conserved throughout evolution. The identification of CHS1/Beige has defined a family of genes containing a common BEACH motif. The function of these proteins in vesicular trafficking remains unknown.
切-东综合征（CHS）是一种罕见的常染色体隐性疾病，其特征为严重的免疫缺陷，包括反复的细菌感染、趋化性受损和自然杀伤（NK）细胞功能异常。患有这种综合征的患者还表现出其他症状，如相关的淋巴增殖综合征、出血倾向、部分白化病和周围神经病变。CHS的典型诊断特征是细胞内存在巨大的溶酶体和细胞质颗粒。在其他哺乳动物中也发现了类似的缺陷，研究最深入的是米色小鼠和阿留申水貂。通过定位克隆方法，在小鼠的13号染色体上鉴定出了米色基因，在人类的1号染色体上鉴定出了CHS1/LYST基因。该基因编码的蛋白质有3801个氨基酸，在整个进化过程中高度保守。CHS1/米色基因的鉴定定义了一个包含共同BEACH基序的基因家族。这些蛋白质在囊泡运输中的功能仍然未知。
