Ontology highlight
ABSTRACT:
SUBMITTER: Zhang Y
PROVIDER: S-EPMC5314798 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Zhang Yingchi Y Zhang Jingliao J An Wenbin W Wan Yang Y Ma Shihui S Yin Jie J Li Xichuan X Gao Jie J Yuan Weiping W Guo Ye Y Engel James Douglas JD Shi Lihong L Cheng Tao T Zhu Xiaofan X
Nucleic acids research 20161007 2
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 ph ...[more]