Genetic Interactions between Neurofibromin and Endothelin Receptor B in Mice.
| Title: | Genetic Interactions between Neurofibromin and Endothelin Receptor B in Mice. |
|---|---|
| Authors: | Deo, Mugdha1, Huang, Jenny Li-Ying1, Van Raamsdonk, Catherine D.1 cvr@mail.ubc.ca |
| Source: | PLoS ONE. Mar2013, Vol. 8 Issue 3, p1-6. 6p. |
| Subject Terms: | *GENETICS, *NEUROFIBROMIN, *ENDOTHELIN receptors, *LABORATORY mice, *GENETIC mutation, *PHENOTYPES, *NEUROFIBROMATOSIS, *CELLULAR signal transduction |
| Abstract: | When mutations in two different genes produce the same mutant phenotype, it suggests that the encoded proteins either interact with each other, or act in parallel to fulfill a similar purpose. Haploinsufficiency of Neurofibromin and over-expression of Endothelin 3 both cause increased numbers of melanocytes to populate the dermis during mouse development, and thus we are interested in how these two signaling pathways might intersect. Neurofibromin is mutated in the human genetic disease, neurofibromatosis type 1, which is characterized by the development of Schwann cell based tumors and skin hyper-pigmentation. Neurofibromin is a GTPase activating protein, while the Endothelin 3 ligand activates Endothelin receptor B, a G protein coupled receptor. In order to study the genetic interactions between endothelin and neurofibromin, we defined the deletion breakpoints of the classical Ednrb piebald lethal allele (Ednrbs-l) and crossed these mice to mice with a loss-of-function mutation in neurofibromin, Dark skin 9 (Dsk9). We found that Neurofibromin haploinsufficiency requires Endothelin receptor B to darken the tail dermis. In contrast, Neurofibromin haploinsufficiency increases the area of the coat that is pigmented in Endothelin receptor B null mice. We also found an oncogenic mutation in the G protein alpha subunit, GNAQ, which couples to Endothelin receptor B, in a uveal melanoma from a patient with neurofibromatosis type 1. Thus, this data suggests that there is a complex relationship between Neurofibromin and Endothelin receptor B. [ABSTRACT FROM AUTHOR] |
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| Items | – Name: Title Label: Title Group: Ti Data: Genetic Interactions between Neurofibromin and Endothelin Receptor B in Mice. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Deo%2C+Mugdha%22">Deo, Mugdha</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Huang%2C+Jenny+Li-Ying%22">Huang, Jenny Li-Ying</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Van+Raamsdonk%2C+Catherine+D%2E%22">Van Raamsdonk, Catherine D.</searchLink><relatesTo>1</relatesTo><i> cvr@mail.ubc.ca</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22PLoS+ONE%22">PLoS ONE</searchLink>. Mar2013, Vol. 8 Issue 3, p1-6. 6p. – Name: Subject Label: Subject Terms Group: Su Data: *<searchLink fieldCode="DE" term="%22GENETICS%22">GENETICS</searchLink><br />*<searchLink fieldCode="DE" term="%22NEUROFIBROMIN%22">NEUROFIBROMIN</searchLink><br />*<searchLink fieldCode="DE" term="%22ENDOTHELIN+receptors%22">ENDOTHELIN receptors</searchLink><br />*<searchLink fieldCode="DE" term="%22LABORATORY+mice%22">LABORATORY mice</searchLink><br />*<searchLink fieldCode="DE" term="%22GENETIC+mutation%22">GENETIC mutation</searchLink><br />*<searchLink fieldCode="DE" term="%22PHENOTYPES%22">PHENOTYPES</searchLink><br />*<searchLink fieldCode="DE" term="%22NEUROFIBROMATOSIS%22">NEUROFIBROMATOSIS</searchLink><br />*<searchLink fieldCode="DE" term="%22CELLULAR+signal+transduction%22">CELLULAR signal transduction</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: When mutations in two different genes produce the same mutant phenotype, it suggests that the encoded proteins either interact with each other, or act in parallel to fulfill a similar purpose. Haploinsufficiency of Neurofibromin and over-expression of Endothelin 3 both cause increased numbers of melanocytes to populate the dermis during mouse development, and thus we are interested in how these two signaling pathways might intersect. Neurofibromin is mutated in the human genetic disease, neurofibromatosis type 1, which is characterized by the development of Schwann cell based tumors and skin hyper-pigmentation. Neurofibromin is a GTPase activating protein, while the Endothelin 3 ligand activates Endothelin receptor B, a G protein coupled receptor. In order to study the genetic interactions between endothelin and neurofibromin, we defined the deletion breakpoints of the classical Ednrb piebald lethal allele (Ednrbs-l) and crossed these mice to mice with a loss-of-function mutation in neurofibromin, Dark skin 9 (Dsk9). We found that Neurofibromin haploinsufficiency requires Endothelin receptor B to darken the tail dermis. In contrast, Neurofibromin haploinsufficiency increases the area of the coat that is pigmented in Endothelin receptor B null mice. We also found an oncogenic mutation in the G protein alpha subunit, GNAQ, which couples to Endothelin receptor B, in a uveal melanoma from a patient with neurofibromatosis type 1. Thus, this data suggests that there is a complex relationship between Neurofibromin and Endothelin receptor B. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of PLoS ONE is the property of Public Library of Science and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1371/journal.pone.0059931 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 1 Subjects: – SubjectFull: GENETICS Type: general – SubjectFull: NEUROFIBROMIN Type: general – SubjectFull: ENDOTHELIN receptors Type: general – SubjectFull: LABORATORY mice Type: general – SubjectFull: GENETIC mutation Type: general – SubjectFull: PHENOTYPES Type: general – SubjectFull: NEUROFIBROMATOSIS Type: general – SubjectFull: CELLULAR signal transduction Type: general Titles: – TitleFull: Genetic Interactions between Neurofibromin and Endothelin Receptor B in Mice. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Deo, Mugdha – PersonEntity: Name: NameFull: Huang, Jenny Li-Ying – PersonEntity: Name: NameFull: Van Raamsdonk, Catherine D. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: Mar2013 Type: published Y: 2013 Identifiers: – Type: issn-print Value: 19326203 Numbering: – Type: volume Value: 8 – Type: issue Value: 3 Titles: – TitleFull: PLoS ONE Type: main |
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