当前位置： SCI文献检索 > HUMAN GENETICS期刊下所有文献 > Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.

Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.

Abstract：

:Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to identify specific genes/organ systems that may play a role in Turner syndrome pathophysiology. Cell-free RNA from amniotic fluid of five mid-trimester Turner syndrome fetuses and five euploid female fetuses matched for gestational age was extracted, amplified, and hybridized onto Affymetrix(®) U133 Plus 2.0 arrays. Significantly differentially regulated genes were identified using paired t tests. Biological interpretation was performed using Ingenuity Pathway Analysis and BioGPS gene expression atlas. There were 470 statistically significantly differentially expressed genes identified. They were widely distributed across the genome. XIST was significantly down-regulated (p < 0.0001); SHOX was not differentially expressed. One of the most highly represented organ systems was the hematologic/immune system, distinguishing the Turner syndrome transcriptome from other aneuploidies we previously studied. Manual curation of the differentially expressed gene list identified genes of possible pathologic significance, including NFATC3, IGFBP5, and LDLR. Transcriptomic differences in the amniotic fluid of Turner syndrome fetuses are due to genome-wide dysregulation. The hematologic/immune system differences may play a role in early-onset autoimmune dysfunction. Other genes identified with possible pathologic significance are associated with cardiac and skeletal systems, which are known to be affected in females with Turner syndrome. The discovery-driven approach described here may be useful in elucidating novel mechanisms of disease in Turner syndrome.

journal_name

Hum Genet

journal_title

Human genetics

authors

Massingham LJ,Johnson KL,Scholl TM,Slonim DK,Wick HC,Bianchi DW

doi

10.1007/s00439-014-1448-y

subject

Has Abstract

pub_date

2014-09-01 00:00:00

pages

1075-82

issue

eissn

0340-6717

issn

1432-1203

journal_volume

133

pub_type

杂志文章

在线工具

Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.