| http://purl.uniprot.org/citations/33658297 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33658297 | http://www.w3.org/2000/01/rdf-schema#comment | "IKZF1 (IKAROS) is essential for normal lymphopoiesis in both humans and mice. Previous Ikzf1 mouse models have demonstrated the dual role for IKZF1 in both B and T cell development and have indicated differential requirements of each zinc finger. Furthermore, mutations in IKZF1 are known to cause common variable immunodeficiency in patients characterized by a loss of B cells and reduced Ab production. Through N-ethyl-N-nitrosourea mutagenesis, we have discovered a novel Ikzf1 mutant mouse with a missense mutation (L132P) in zinc finger 1 (ZF1) located in the DNA binding domain. Unlike other previously reported murine Ikzf1 mutations, this L132P point mutation (Ikzf1L132P ) conserves overall protein expression and has a B cell-specific phenotype with no effect on T cell development, indicating that ZF1 is not required for T cells. Mice have reduced Ab responses to immunization and show a progressive loss of serum Igs compared with wild-type littermates. IKZF1L132P overexpressed in NIH3T3 or HEK293T cells failed to localize to pericentromeric heterochromatin and bind target DNA sequences. Coexpression of wild-type and mutant IKZF1, however, allows for localization to pericentromeric heterochromatin and binding to DNA indicating a haploinsufficient mechanism of action for IKZF1L132P Furthermore, Ikzf1+/L132P mice have late onset defective Ig production, similar to what is observed in common variable immunodeficiency patients. RNA sequencing revealed a total loss of Hsf1 expression in follicular B cells, suggesting a possible functional link for the humoral immune response defects observed in Ikzf1L132P/L132P mice."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.org/dc/terms/identifier | "doi:10.4049/jimmunol.1901464"xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Andrews T.D."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Mei Y."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Yu Z."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Cockburn I.A."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Kuehn H.S."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Rosenzweig S.D."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Athanasopoulos V."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Enders A."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Goodnow C.C."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Nasreen M."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Miosge L.A."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Cho V."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Sontani Y."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Howard D."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Boast B."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "McNamara H.A."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Omari S.A."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/author | "Sutton H.J."xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/name | "J Immunol"xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/pages | "1505-1514"xsd:string |
| http://purl.uniprot.org/citations/33658297 | http://purl.uniprot.org/core/title | "A Point Mutation in IKAROS ZF1 Causes a B Cell Deficiency in Mice."xsd:string |