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Omics score: 0

Ultraconserved Enhancers Are Required for Normal Development

ABSTRACT: Ultraconserved Enhancers Are Required for Normal Development

OTHER RELATED OMICS DATASETS IN: GSE100384GSE100394

PROVIDER: PRJNA391512 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR5408050.fastq.gz	Fastqsanger.gz
	SRR5408060.fastq.gz	Fastqsanger.gz
	SRR5408051.fastq.gz	Fastqsanger.gz
	SRR5408061.fastq.gz	Fastqsanger.gz
	SRR5408052.fastq.gz	Fastqsanger.gz

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Ultraconserved Enhancers Are Required for Normal Development [Drop-seq]

Project description:Ultraconserved Enhancers Are Required for Normal Development [Drop-seq]

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Ultraconserved Enhancers Are Required for Normal Development [Drop-seq]

Project description:Non-coding ultraconserved regions showing hundreds of consecutive bases of perfect evolutionary sequence conservation across mammalian genomes have intrigued biologists in the decade since they were first described. While many of these sequences are known to represent distant-acting enhancers, initial deletion studies in mice showed that their loss had no obvious impact on viability or fertility. To explore the discrepancy between extraordinary evolutionary constraint and an apparent lack of phenotypes when deleted in vivo, we used genome editing to create an expanded series of knockout mice lacking individual or combinations of ultraconserved brain enhancers near the essential neuronal transcription factor Arx. While the loss of any single or pair of ultraconserved enhancers resulted in viable and fertile mice, detailed phenotyping revealed neurological or growth abnormalities in nearly all cases, including substantial alterations of neuron populations and abnormalities of the dentate gyrus. Our results demonstrate the functional importance of ultraconserved enhancers and highlight that extreme sequence conservation may result from evolutionary selection against fitness deficits that appear subtle in a laboratory setting.

2018-01-17 | GSE100384 | GEO

Ultraconserved Enhancers Are Required for Normal Development [RNA-seq]

Project description:Analysis of the transcriptional changes in the forebrain resulting from the loss of ultraconserved enhancers near Arx gene.

2018-01-17 | GSE97321 | GEO

Ultraconserved Enhancers Are Required for Normal Development.

Project description:Non-coding "ultraconserved" regions containing hundreds of consecutive bases of perfect sequence conservation across mammalian genomes can function as distant-acting enhancers. However, initial deletion studies in mice revealed that loss of such extraordinarily constrained sequences had no immediate impact on viability. Here, we show that ultraconserved enhancers are required for normal development. Focusing on some of the longest ultraconserved sites genome wide, located near the essential neuronal transcription factor Arx, we used genome editing to create an expanded series of knockout mice lacking individual or combinations of ultraconserved enhancers. Mice with single or pairwise deletions of ultraconserved enhancers were viable and fertile but in nearly all cases showed neurological or growth abnormalities, including substantial alterations of neuron populations and structural brain defects. Our results demonstrate the functional importance of ultraconserved enhancers and indicate that remarkably strong sequence conservation likely results from fitness deficits that appear subtle in a laboratory setting.

| S-EPMC5786478 | biostudies-literature

Ultraconserved Enhancers Are Required for Normal Development

Project description:This SuperSeries is composed of the SubSeries listed below.

2018-01-17 | GSE100394 | GEO

Mus musculus

Project description:Ultraconserved Enhancers Are Required for Normal Development [RNA-seq]

| PRJNA381396 | ENA

Differentially expressed Transcribed ultraconserved regions (T-UCRs) in Crohn's disease (CD) comparing to normal controls (NC)

2016-07-05 | GSE83982 | GEO

Klf6 is required in thymic epithelial cells for normal thymus development

Project description:Klf6 is required in thymic epithelial cells for normal thymus development

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Differentially expressed Transcribed ultraconserved regions (T-UCRs) in Crohn's disease (CD) comparing to normal controls (NC)

Project description:To date, 481 transcribed ultraconserved regions (T-UCRs) have been discovered in human genome. We aimed to investigate their characteristics in Crohnâs disease (CD) with conparison to healthy normal controls, to reveal differentially expressed T-UCRs. 3 CD patients and 3 NC volunteers were recruited in this study. With colonoscopy, colon mocosa pinch biopsy samles were got at inflammed site in CD patients and normal sites in NC volunteers respectively.

2016-07-05 | E-GEOD-83982 | biostudies-arrayexpress

BCL11A is required for normal erythropoiesis

Project description:BCL11A is required for normal erythropoiesis

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