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BCL11A is highly expressed in several hematopoietic lineages, and plays a role in the switch from γ- to β-globin expression during the fetal to adult erythropoiesis transition. [ 9 ] Furthermore, BCL11A is expressed in the brain, where it forms a protein complex with CASK to regulate axon outgrowth and branching. [ 10 ]
B-cell CLL/lymphoma refers to a family of genes associated with certain types of lymphoma and leukemia.. Although named for B-cell chronic lymphocytic leukemia, they can be associated with other malignancies.
In addition HbF levels are influenced by polymorphisms in the BCL11A gene [3] and in the MYB gene enhancer. [4] In HPFH the percentage of HbF varies from 0.8-1.0% to about 30% of the total hemoglobin, but levels as high as 100% can be seen in homozygotes for delta beta thalassemia. [citation needed]
This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies.The specific function of this gene has not yet been determined, but it could also be involved in some malignancies.
Whilst it was known that BCL11A was involved with cancer, Thein was the first to show that BCL11A was associated with red blood cell disorders. [5] The 6q QTL contains single-nucleotide polymorphisms distributed across three linkage disequilibrium blocks, in an intergenic region between MYB and HBS1L . [ 1 ]
The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Haemoglobin.
CUT&RUN sequencing, also known as cleavage under targets and release using nuclease, is a method used to analyze protein interactions with DNA.CUT&RUN sequencing combines antibody-targeted controlled cleavage by micrococcal nuclease with massively parallel DNA sequencing to identify the binding sites of DNA-associated proteins.
1 in 50,000 to 100,000 (X-linked form) Severe combined immunodeficiency ( SCID ), also known as Swiss-type agammaglobulinemia , is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in differing clinical presentations. [ 2 ]