GeneID: 364


Common Name: LSD1 Type: Gene
Chromosome: 1 (NC_000001.11) Locus: NG_047129.1 (KDM1A)
HUGO Symbol: KDM1A Full Name: lysine demethylase 1A
Exons: 21 Introns: 20

Lysine-specific demethylase 1A (KDM1A/LSD1) is a flavin-dependent amine oxidase that catalyzes the removal of methyl at positions 'Lys-4' (H3K4me1/me2) and 'Lys-9' (H3K9me1/me2) on histone H3 repressing and activating transcription, respectively. Demethylation of H3K4me2/me1 has been connected with gene repression in haematopoietic stem cells (HSC) and HSC maintenance. LSD1 is commonly found in association with the CoREST transcriptional repressor complex. This complex has been shown to interact with BCL11A, as well as with class I histone deacetylases HDAC1 and HDAC2, and to mediate part of their γ-globin gene silencing activity. LSD1 also has been shown to associate with the nuclear receptors TR2/TR4 and DNA methyltransferase 1 (DNMT1) to form the the DRED complex, a known repressor of embryonic and fetal globin genes in adults. RN-1 is a potent and selective inhibitor of LSD1 and linked to the induction of γ-globin and HbF synthesis in a sickle cell disease mouse model, as well as in erythroid progenitor cells derived from β0-thalassemia/HbE patients.

Synonyms: AOF2 , CPRF , KDM1 , BHC110


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Publications / Origin

  1. Thein SL, Genetic association studies in β-hemoglobinopathies., Hematology Am Soc Hematol Educ Program, 2013(0), 354-61, 2013 PubMed
  2. Ginder GD, Epigenetic regulation of fetal globin gene expression in adult erythroid cells., Transl Res, 165(1), 115-25, 2015 PubMed
  3. Burg JM, Gonzalez JJ, Maksimchuk KR, McCafferty DG, Lysine-Specific Demethylase 1A (KDM1A/LSD1): Product Recognition and Kinetic Analysis of Full-Length Histones., Biochemistry, 55(11), 1652-62, 2016 PubMed
  4. Kaewsakulthong W, Pongpaksupasin P, Nualkaew T, Hongeng S, Fucharoen S, Jearawiriyapaisarn N, Sripichai O, Lysine-specific histone demethylase 1 inhibition enhances robust fetal hemoglobin induction in human β-thalassemia/hemoglobin E erythroid cells., Hematol Rep, 13(4), 9215, 2021 PubMed
Created on 2020-03-26 19:27:40, Last reviewed on 2022-03-23 17:01:31 (Show full history)

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