Document Type
Poster Session
Department
Biological Sciences
Faculty Mentor
Dr. Daniel Moore
Keywords
Genesis of Cancer.
Abstract
The inherited bone marrow failure syndromes are heterogeneous group of rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition. This includes disorders associated with pancytopenia, such as fanconi anemia and dyskeratosis congenita, as well as disorders with predominantly, but not exclusively, single lineage cytopenias. These syndromes are associated with mutations in 33 genes, and this has led to further understanding of hematopoiesis and how this is disrupted in patients with bone marrow failure. Other fundamental biological pathways were examined in patients, such as the DNA repair-fa/BRCA pathway. Fanconi anemia/ BRCA is a human tumor suppressor gene also known as a caretaker gene and is responsible for repairing damage DNA or destroy cells if DNA cannot be repaired. Another pathway examined was the telomere maintenance of dyskeratosis congenita, an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, that has been found to have x-linked recessive, autosomal dominant and autosomal recessive subtypes. There is also a mutated gene in x-linked DC (DKC1) which encodes a highly conserved nucleolar protein called dyskerin. Dyskerin associates with the H/ACA (human anti-chimeric antibody) a class of small nucleolar RNA in small nucleolar ribonucleoprotein particles (snornp), which are important in guiding the conversion of uracil to pseudouracil during the maturation of ribosomal RNA. This poster reviews recent literature about the mutations that are most directly associated with this rare genetic disorder.
Open Access?
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Included in
Inherited Bone-Marrow Failure Syndrome
The inherited bone marrow failure syndromes are heterogeneous group of rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition. This includes disorders associated with pancytopenia, such as fanconi anemia and dyskeratosis congenita, as well as disorders with predominantly, but not exclusively, single lineage cytopenias. These syndromes are associated with mutations in 33 genes, and this has led to further understanding of hematopoiesis and how this is disrupted in patients with bone marrow failure. Other fundamental biological pathways were examined in patients, such as the DNA repair-fa/BRCA pathway. Fanconi anemia/ BRCA is a human tumor suppressor gene also known as a caretaker gene and is responsible for repairing damage DNA or destroy cells if DNA cannot be repaired. Another pathway examined was the telomere maintenance of dyskeratosis congenita, an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, that has been found to have x-linked recessive, autosomal dominant and autosomal recessive subtypes. There is also a mutated gene in x-linked DC (DKC1) which encodes a highly conserved nucleolar protein called dyskerin. Dyskerin associates with the H/ACA (human anti-chimeric antibody) a class of small nucleolar RNA in small nucleolar ribonucleoprotein particles (snornp), which are important in guiding the conversion of uracil to pseudouracil during the maturation of ribosomal RNA. This poster reviews recent literature about the mutations that are most directly associated with this rare genetic disorder.
