Gene-dosage effect on chromosome 21 transcriptome in trisomy 21: Implication in Down syndrome cognitive disorders

被引：23

作者：

Kahlem, Pascal ^{[1
]}

机构：

[1] Charite Univ Med Berlin, Dept Hematol & Oncol, D-13353 Berlin, Germany

来源：

BEHAVIOR GENETICS | 2006年 / 36卷 / 03期

关键词：

chromosome; 21; Down syndrome; mental retardation; transcriptome;

D O I：

10.1007/s10519-006-9053-z

中图分类号：

B84 [心理学]; C [社会科学总论]; Q98 [人类学];

学科分类号：

03 ; 0303 ; 030303 ; 04 ; 0402 ;

摘要：

In the era of human functional genomics, the chromosome 21 has represented a prototype for pioneering global biotechnologies. Its relatively low gene content enabled studying Down syndrome at the chromosomal scale, for which the last years have seen intense research activity aiming at genotype-phenotype correlations. The global gene-dose dependent upregulation of gene expression seen in the context of trisomy and preliminary functional annotation of chromosome 21 genes points towards candidate genes and molecular pathways potentially associated with the cognitive defects observed in Down syndrome.

引用

页码：416 / 428

页数：13

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