User:Mohammed Khimani/sandbox


 * Image is already on the wikipedia page- it is not included in my sandbox**

= SPI1 gene = In humans the SPI1 gene is located on chromosome 11, specifically on the p arm of the chromosome. The gene codes for the transcription factor PU.1. The transcript for PU.1 is 1333 nucleotides long and contains 5 exons. The PU.1 protein has 264 amino acids, with the DNA binding domain located in the carboxyl terminal of the protein. The Spi-1 gene is active in myeloid progenitor cells as well as lymphoid progenitor cells to initiate differentiation of the progenitor cells to mature immune system cells. Some diseases associated with the SPI1 gene are Inflammatory Diarrhea and Interdigitating Dendritic Cell Sarcoma.

SPI1 has been shown to interact with:
 * FUS ,
 * GATA2 ,
 * IRF4 , and
 * NONO.

PU.1 protein function
The PU.1 protein is an ETS family transcription factor that is expressed in hematopoietic tissues, which are areas where new blood cells form. The ETS domain of the PU.1 protein exhibits a winged helix-turn-helix motif with a loop-helix-loop architecture, and interacts with a 10-base-pair region on duplex DNA. The PU.1 protein has been found to be needed for proper hematopoietic stem cell function and development. Hematopoietic stem cell express PU.1, and its expression is needed for maintenance of the hematopoietic stem cell pool that is kept in the bone marrow.

Macrophages have the highest levels of PU.1 protein. The PU.1 protein within macrophages control the expression of genes involved in macrophage differentiation and function. The activation of the PU.1 protein allows for myeloid progenitor cells to differentiate and give rise to mature macrophages.

Previous research on the PU. 1 protein has found that it can act as an oncogene. To research this function of PU.1 proteins, the gene that encodes for this PU. 1 protein was mutated through gene targeting. When the gene was mutated, it was no longer functional. This lead to the indefinite proliferation of myeloid and lymphoid progenitor cells. Due to this the myeloid and lymphoid progenitor cells did not differentiate into mature immune system cells. It was seen that mice without the PU.1 protein died after birth, as they were lacking both the myeloid and lymphoid lineage cells, thus showing lacking the PU. 1 protein is lethal.

Acute Myeloid Leukemia (AML)
Acute myeloid leukemia (AML) is a form of blood cancer characterized by no differentiation of white blood cells. The PU.1 transcription factor is known to play a role in AML when mutated. When the gene is mutated is causes a decrease in differentiation of myeloid progenitor cells to white blood cells. Even only a slight reduction in PU.1 levels is enough to cause the AML phenotype.