ISOLATION OF THE GENE FOR MCLEOD SYNDROME THAT ENCODES A NOVEL MEMBRANE-TRANSPORT PROTEIN
ISOLATION OF THE GENE FOR MCLEOD SYNDROME THAT ENCODES A NOVEL MEMBRANE-TRANSPORT PROTEIN
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DOI：
10.1016/0092-8674(94)90136-8
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发表时间：
1994-06-17
期刊：
影响因子：
64.5
通讯作者：
MONACO, AP
中科院分区：
文献类型：
--
作者：
HO, MF;CHELLY, J;MONACO, AP
麦克劳德综合征是一种X连锁多系统疾病，其特征是神经肌肉和造血系统异常。我们已经组装了一个360 kb的粘粒重叠群，包括麦克劳德基因位点。一个50 kb的缺失检测到的放射性标记的全Cosmetic患者的DNA筛选，并确定在此删除两个转录单位。其中之一的mRNA表达模式，指定为XK，密切相关的麦克劳德表型。XK编码一种具有原核和真核细胞膜转运蛋白结构特征的新蛋白。核苷酸序列分析XK从两个无关的麦克劳德患者已确定在保守的剪接供体和受体位点的点突变。这些发现提供了直接证据，XK是负责麦克劳德综合征。
Mcleod syndrome is an X-linked multisystem disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. We have assembled a cosmid contig of 360 kb that encompasses the McLeod gene locus. A 50 kb deletion was detected by screening DNA from patients with radiolabeled whole cosmids, and two transcription units were identified within this deletion. The mRNA expression pattern of one of them, designated as XK, correlates closely to the McLeod phenotype. XK encodes a novel protein with structural characteristics of prokaryotic and eukaryotic membrane transport proteins. Nucleotide sequence analysis of XK from two unrelated McLeod patients has identified point mutations at conserved splice donor and acceptor sites. These findings provide direct evidence that XK is responsible for McLeod syndrome.