Shwachman-Bodian-Diamond Syndrome Protein: Difference between revisions

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Andrea Gorrell, Simmi Parhar, David Canner, Michal Harel, Alexander Berchansky, Jaime Prilusky

Revision as of 10:50, 31 March 2010 view source Simmi Parhar (talk \| contribs) 64 edits No edit summary ← Older edit		Revision as of 11:08, 31 March 2010 view source Simmi Parhar (talk \| contribs) 64 edits No edit summary Newer edit →
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	== '''Mutations''' ==		== '''Mutations''' ==
	SBDS protein mutations persist into the Shwachman-Diamond syndrome (SDS) with the conversion mutation caused by the recombination between the SBDS gene and a pseudogene <ref name="one">PMID:15701631</ref>. The SDS may also formulate from the frameshift and missense mutations of the SBDS genes. The mutations are predominantly found at the N-terminal domain. In turn, this results in less expression of the SBDS protein (absence of SBDS protein has been shown to be lethal in mice and patients with two void SBDS alleles have not been found)<ref name="one">PMID:15701631</ref>. The SBDS protein has an important function in some cells is implicated by the lethality found in mice on its absence. The phenotypes associated with SDS, in addition to the lethality associated with its absence, imply that the SBDS protein has an essential function in some cells. Individuals affected by SDS have bone marrow dysfunction, skeletal abnormalities, resultant pancytopenia, a predisposition to leukemia, and insufficient exocrine pancreatic function<ref name="one">PMID:15701631</ref><ref name="three">PMID:17643419</ref>.		SBDS protein mutations persist into the Shwachman-Diamond syndrome (SDS) with the conversion mutation caused by the recombination between the SBDS gene and a pseudogene <ref name="one">PMID:15701631</ref>. The SDS may also formulate from the frameshift and missense mutations of the SBDS genes. The mutations are predominantly found at the N-terminal domain. In turn, this results in less expression of the SBDS protein (absence of SBDS protein has been shown to be lethal in mice and patients with two void SBDS alleles have not been found)<ref name="one">PMID:15701631</ref>. The SBDS protein has an important function in some cells is implicated by the lethality found in mice on its absence. The phenotypes associated with SDS, in addition to the lethality associated with its absence, imply that the SBDS protein has an essential function in some cells. Individuals affected by SDS have bone marrow dysfunction, skeletal abnormalities, resultant pancytopenia, a predisposition to leukemia, and insufficient exocrine pancreatic function<ref name="one">PMID:15701631</ref><ref name="three">PMID:17643419</ref>.