EME1

Description

The EME1 (essential meiotic structure-specific endonuclease 1) is a protein-coding gene located on chromosome 17.

EME1, a human gene, encodes a crossover junction endonuclease that forms a complex with MUS81 to resolve Holliday junctions. In mammals, the EME1/MUS81 complex is redundant for DNA damage repair with GEN1 endonuclease. In mice, EME1/MUS81 and GEN1 both participate in Holliday junction processing. When mice have homozygous mutations in both Gen1 and Eme1, it results in early embryonic lethality. Homozygous mutations in Gen1 alone do not cause DNA repair deficiency in mice. However, when mice have both homozygous mutations in Gen1 and heterozygous mutations in Emc1, they exhibit increased sensitivity to DNA damaging agents. This suggests that GEN1 and EME1 have redundant roles in DNA repair. Gen1 and Emc1 have also been shown to have redundant roles in meiotic recombination.

EME1 interacts with MUS81 to create a DNA structure-specific endonuclease that prefers branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks, and nicked Holliday junctions. EME1 may be needed in mitosis for the processing of stalled or collapsed replication forks. {ECO:0000269|PubMed:12686547, ECO:0000269|PubMed:12721304, ECO:0000269|PubMed:14617801, ECO:0000269|PubMed:17289582}

EME1 is also known as MMS4L, SLX2A.

Associated Diseases

• primary familial polycythemia due to EPO receptor mutation
• hemolytic anemia due to diphosphoglycerate mutase deficiency
• erythrocytosis, familial, 3
• erythrocytosis, familial, 6
• alpha thalassemia-intellectual disability syndrome type 1
• erythrocytosis, familial, 4
• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• familial isolated congenital asplenia
• dehydrated hereditary stomatocytosis
• dominant beta-thalassemia
• hemoglobin C-beta-thalassemia syndrome
• hemoglobin H disease