X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications.
X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications.
复制标题
X 染色体特异性 cDNA 阵列：鉴定避免 X 失活和其他应用的基因。
作者：
R. Sudbrak;Georg Wieczorek;U. Nuber;W. Mann;Roland Kirchner;F. Erdogan;Carolyn J. Brown;D. Wöhrle;P. Sterk;V. Kalscheuer;W. Berger;H. Lehrach;H. Ropers
突变等位基因通常以低表达水平为特征。因此，基于 cDNA 阵列的基因表达谱可能是识别单基因疾病基因缺陷的有前途的策略。为了研究这种方法的潜力，我们生成了一个 X 染色体特异性微阵列，其携带 2423 个克隆的 cDNA 片段，代表多达 1317 个不同的 X 染色体基因。作为测试 X 连锁疾病患者细胞系的前奏，该阵列被用作杂交探针，以比较正常男性、女性和具有多余 X 染色体的个体的淋巴母细胞系中的基因表达谱。芯片上一半以上的基因获得了可测量的杂交信号。共有 53 个基因在具有多个 X 染色体的细胞中表现出表达水平升高，其中许多基因被发现逃脱了 X 失活。此外，对包含三个基因的雄性存活缺失的检测说明了该阵列在鉴定小的不平衡染色体重排方面的实用性。
Mutant alleles are frequently characterized by low expression levels. Therefore, cDNA array-based gene expression profiling may be a promising strategy for identifying gene defects underlying monogenic disorders. To study the potential of this approach, we have generated an X chromosome-specific microarray carrying 2423 cloned cDNA fragments, which represent up to 1317 different X-chromosomal genes. As a prelude to testing cell lines from patients with X-linked disorders, this array was used as a hybridization probe to compare gene expression profiles in lymphoblastoid cell lines from normal males, females and individuals with supernumerary X chromosomes. Measurable hybridization signals were obtained for more than half of the genes represented on the chip. A total of 53 genes showed elevated expression levels in cells with multiple X chromosomes and many of these were found to escape X-inactivation. Moreover, the detection of a male-viable deletion encompassing three genes illustrates the utility of this array for the identification of small unbalanced chromosome rearrangements.
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DOI：
10.1073/pnas.96.22.12833
发表时间：
1999-10-26
影响因子：
11.1
作者：
Wilson, W;DeRisi, J;Schoolnik, GK
通讯作者：
Schoolnik, GK
影响因子：
3.3
作者：
Spellman, PT;Sherlock, G;Futcher, B
通讯作者：
Futcher, B
从人类 X 染色体远端短臂中分离出一个新基因，该基因逃脱了 X 失活。
影响因子：
3.5
作者：
Yen,PH;Ellison,J;Salido,EC;Mohandas,T;Shapiro,L
通讯作者：
Shapiro,L
影响因子：
56.9
作者：
DeRisi, JL;Iyer, VR;Brown, PO
通讯作者：
Brown, PO
DOI：
10.1073/pnas.96.13.7364
发表时间：
1999-06-22
影响因子：
11.1
作者：
Carrel, L;Willard, HF
通讯作者：
Willard, HF