Pathogenic variants in non-protein-coding sequences

被引：29
作者：
Makrythanasis, P. [1 ]
Antonarakis, S. E. [1 ,2 ]
机构：
[1] Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
[2] Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland
来源：
CLINICAL GENETICS | 2013年 / 84卷 / 05期
关键词：
enhancers; lncRNA; miRNA; non-coding sequences; pathogenic variants; promoters; RANGE SHH ENHANCER; LONG-RANGE; TRIPHALANGEAL THUMB; GENETIC-VARIATION; RNA COMPONENT; HEARING-LOSS; SEED REGION; MUTATIONS; TELOMERASE; EXPRESSION;
D O I：
10.1111/cge.12272
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
There are approximately 3000 human protein-coding genes that have been linked with (near) monogenic disorders. This knowledge reflects the past and present focus on protein-coding genes as the main reservoir of pathogenic variation in the human genome. However, the Medical Genome' includes all the functional genomic elements for which genotypic variability is a source of pathogenic phenotypes. This short review focuses on examples of pathogenic variants in non-protein-coding gene regions. It is likely that the evolving methods of DNA sequencing and functional characterization of the genome will enhance our understanding of the contribution by all functional genomic elements in both Mendelian and complex phenotypes.
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收藏
页码：422 / 428
页数：7
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