| http://purl.uniprot.org/citations/28123038 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28123038 | http://www.w3.org/2000/01/rdf-schema#comment | "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 (T AGATAA: AGCCCC) and found that hemizygous deletion led to an embryonic lethal phenotype due to severe anemia resulting from a lack of ALAS2 expression, indicating that this non-coding sequence is indispensable for ALAS2 expression in vivo Further analyses revealed that this int-1-GATA site anchored the GATA site in intron 8 (int-8-GATA) and the proximal promoter, forming a long-range loop to enhance ALAS2 expression by an enhancer complex including GATA1, TAL1, LMO2, LDB1 and Pol II at least, in erythroid cells. However, compared with the int-8-GATA site, the int-1-GATA site is more essential for regulating ALAS2 expression through CRISPR/Cas9-mediated site-specific deletion. Therefore, the int-1-GATA site could serve as a valuable site for diagnosing XLSA in cases with unknown mutations."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.org/dc/terms/identifier | "doi:10.1093/nar/gkw901"xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Guo Y."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Gao J."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Li X."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Ma S."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Zhang J."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Zhu X."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Yin J."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Wan Y."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Shi L."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Yuan W."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Cheng T."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "Engel J.D."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/author | "An W."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/name | "Nucleic Acids Res"xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/pages | "657-671"xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/title | "Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation."xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://purl.uniprot.org/core/volume | "45"xsd:string |
| http://purl.uniprot.org/citations/28123038 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28123038 |
| http://purl.uniprot.org/citations/28123038 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/28123038 |
| http://purl.uniprot.org/uniprot/#_A2AFM0-mappedCitation-28123038 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28123038 |