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Article

Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation.

Nucleic acids research - 25 Jan 2017

Zhang Yingchi, Zhang Jingliao, An Wenbin, Wan Yang, Ma Shihui, Yin Jie, Li Xichuan, Gao Jie, Yuan Weiping, Guo Ye, Engel James Douglas, Shi Lihong, Cheng Tao, Zhu Xiaofan

Abstract excerpt

The first intronic mutations in the intron 1 GATA site (int-1-GATA) of 5-aminolevulinate synthase 2 (ALAS2) have been identified in X-linked sideroblastic anemia (XLSA) pedigrees, strongly suggesting it could be causal mutations of XLSA. However, the function of this int-1-GATA site during in vivo development remains largely unknown. Here, we generated mice lacking a 13 bp fragment, including this int-1-GATA site...

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Share to 5-Aminolevulinate Synthetase
Share to Anemia, Sideroblastic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Erythroid Cells

Share to GATA1 Transcription Factor

Share to Genes, Lethal

Share to Genetic Diseases, X-Linked

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Source

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Identifiers

PMID: 28123038
DOI: 10.1093/nar/gkw901
PMCID: PMC5314798

Genes

ALAS2
GATA1
LDB1
LMO2
TAL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation.PMID 28123038Read ↗

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Identification and Characterization of a Conserved Erythroid-specific Enhancer Located in Intron 8 of the Human 5-Aminolevulinate Synthase 2 GeneSemantic proximity Read ↗

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Gene symbol: ALAS2. Disease: sideroblastic anaemia.Semantic proximity Read ↗

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