Assignment of the human glycogen debrancher gene to chromosome 1p21.
Assignment of the human glycogen debrancher gene to chromosome 1p21.
复制标题
人类糖原脱支基因分配至染色体 1p21。
DOI：
10.1016/0888-7543(92)90003-b
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发表时间：
1992
期刊：
影响因子：
4.4
通讯作者：
Kao,FT
中科院分区：
文献类型：
--
作者：
Yang-Feng,TL;Zheng,K;Yu,J;Yang,BZ;Chen,YT;Kao,FT
糖原脱支酶是一种单体蛋白，具有糖原降解所必需的两种独立的催化活性：葡萄糖转移酶和葡萄糖苷酶。它的缺乏导致III型糖原储存病。大多数患者在肝脏和肌肉中都存在酶活性缺陷（IIIa型），但约15%的患者仅在肝脏中缺乏酶活性（IIIb型）；然而，酶是一个单体，似乎在所有组织中都是相同的。编码完整的人类肌肉去分支酶的cDNA最近被分离出来。利用cDNA克隆，通过体细胞杂交分析，将脱分枝基因定位在人1号染色体上。通过原位杂交确定染色体带1p21的区域分配。将脱支基因定位到单个染色体位点与我们的假设一致，即单个基因编码肝脏和肌肉脱支蛋白。
Glycogen debranching enzyme is a monomeric protein containing two independent catalytic activities of glycantransferase and glucosidase that are both required for glycogen degradation. Its deficiency causes type III glycogen storage disease. A majority of the patients with this disease have deficient enzyme activity in both liver and muscle (type IIIa) but ∼15% of them lack enzyme activity only in the liver (type IIIb); however, the enzyme is a monomer and appears to be identical in all the tissues. The cDNA coding for the complete human muscle debranching enzyme has recently been isolated. Using the cDNA clones, the debrancher gene was localized to human chromosome 1 by somatic cell hybrid analysis. Regional assignment to chromosome band 1p21 was determined byin situhybridization. Mapping of the debrancher gene to a single chromosome site is consistent with our hypotheses that a single gene encodes both liver and muscle debrancher protein.