Sims et al., "Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1
, CD33 and CD2AP are associated with Alzheimer's disease," Nature Genetics, vol.
The cellular analysis of the two-color immunofluorescence in ventral horn of the rat spinal cord showed a colocalization of the EphA1
, EphA2, EphA7, EphA8, EphB1, EphB4, and EphB6 receptors, as well as the ephrin A5 with the NF-200 positive motor neurons of this region.
(6) The prototype of this gene family (EphA1
) was isolated from an erythropoietin-producing hepatoma cell line.
The first member, named EphA1
, was cloned from an erythropoietin-producing hepatocellular cancer cell line and the second member, EphA2, was identified by screening the human epithelial (Hela cells) cDNA library.
They include complement component receptor 1 (CR1), bridging integrator 1 (BIN1), clusterin (CLU), phosphatidylinositol binding clathrin assembly protein (PICALM), membrane-spanning 4-domains, subfamily A, member 4A/membrane-spanning 4-domains, subfamily A, member 6E (MS4A4/MS4A6E), CD2-associated protein (CD2AP), CD33 molecule (CD33), EPH receptor A1 (EPHA1
), and ATP-binding cassette, subfamily A, member 7 (ABCA7) .
In contrast to the abovementioned restrictions, the EphB3 and EphB4, EphA1, EphA2, and EphA7 genes are widely expressed.
Furthermore, investigation of the pooled RNA of eight glioblastoma biopsies revealed six candidates, which were more than fivefold differentially expressed compared with healthy brain tissue: EphA2, ephrin-A4, and EphB4 were up-regulated, whereas EphA1, EphA8, and ephrin-A5 were down-regulated (Fig.
More recently, several independent genome-wide association studies (GWAS) identified 21 new genetic loci by CLU, PICALM, CR1, BIN1, CD33, ABCA7, MS4A6A, MS4A4E, CD2AP, EPHA1
, HLADRB5/DRB1, SORL1, PTK2B, SLC24A4, ZCWPW1, CELF1, FERMT2, CASS4, INPP5D, MEF2C, and NME8 .