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The Role of SOX2 in the Development ...

Langer, Lee Frank.

The Role of SOX2 in the Development of the Optic Cup, Hypothalamus and Secondary Palate.

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	The Role of SOX2 in the Development of the Optic Cup, Hypothalamus and Secondary Palate.
作者:	Langer, Lee Frank.
面頁冊數:	179 p.
附註:	Source: Dissertation Abstracts International, Volume: 74-09(E), Section: B.
附註:	Advisers: Larysa H. Pevny; Kathleen Sulik.
Contained By:	Dissertation Abstracts International74-09B(E).
標題:	Developmental biology.
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3562758
ISBN:	9781303105623

The Role of SOX2 in the Development of the Optic Cup, Hypothalamus and Secondary Palate.
Langer, Lee Frank.

The Role of SOX2 in the Development of the Optic Cup, Hypothalamus and Secondary Palate. - 179 p.

Source: Dissertation Abstracts International, Volume: 74-09(E), Section: B.

Thesis (Ph.D.)--The University of North Carolina at Chapel Hill, 2013.

This item must not be sold to any third party vendors.

SOX2 is a HMG domain-containing transcription factor expressed in all neural progenitor cells of the developing and adult nervous system. Several critical properties of neural progenitors, including the ability to self-renew and pluripotency, depend on Sox2 function. SOX2 haploinsufficient humans exhibit abnormalities in tissues that derive from the neural ectoderm and in several facial structures. Previous models of this disorder have been limited in their descriptive ability. The generation of mice hypomorphic for Sox2 (Sox2HYP) has allowed an analysis of Sox2 function in an environment in which its dosage is constitutively lower. A previous study of these mice confirmed their value as a model for SOX2 haploinsufficiency but was limited to later developmental stages; it is therefore unknown (i) what developmental events lead to the observed phenotypes and (ii) whether these mice exhibit other abnormalities observed in cases of SOX2 haploinsufficiency (Taranova, et al., 2006). Therefore, this thesis was undertaken with the following hypotheses: (i) mouse embryos that are hypomorphic for Sox2 (Sox2 HYP) will exhibit early ocular, neural, and craniofacial defects that are consistent with the phenotypes that are observed in humans with SOX2 haploinsufficiency, and (ii) the molecular analyses of these developing tissues and structures in the Sox2HYP mouse embryo will provide information regarding the specific function of Sox2 in the development of the brain and eye..

ISBN: 9781303105623Subjects--Topical Terms:

193434
Developmental biology.

The Role of SOX2 in the Development of the Optic Cup, Hypothalamus and Secondary Palate.
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100 1 $a Langer, Lee Frank. $3 708601
245 1 4 $a The Role of SOX2 in the Development of the Optic Cup, Hypothalamus and Secondary Palate.
300 $a 179 p.
500 $a Source: Dissertation Abstracts International, Volume: 74-09(E), Section: B.
500 $a Advisers: Larysa H. Pevny; Kathleen Sulik.
502 $a Thesis (Ph.D.)--The University of North Carolina at Chapel Hill, 2013.
506 $a This item must not be sold to any third party vendors.
520 $a SOX2 is a HMG domain-containing transcription factor expressed in all neural progenitor cells of the developing and adult nervous system. Several critical properties of neural progenitors, including the ability to self-renew and pluripotency, depend on Sox2 function. SOX2 haploinsufficient humans exhibit abnormalities in tissues that derive from the neural ectoderm and in several facial structures. Previous models of this disorder have been limited in their descriptive ability. The generation of mice hypomorphic for Sox2 (Sox2HYP) has allowed an analysis of Sox2 function in an environment in which its dosage is constitutively lower. A previous study of these mice confirmed their value as a model for SOX2 haploinsufficiency but was limited to later developmental stages; it is therefore unknown (i) what developmental events lead to the observed phenotypes and (ii) whether these mice exhibit other abnormalities observed in cases of SOX2 haploinsufficiency (Taranova, et al., 2006). Therefore, this thesis was undertaken with the following hypotheses: (i) mouse embryos that are hypomorphic for Sox2 (Sox2 HYP) will exhibit early ocular, neural, and craniofacial defects that are consistent with the phenotypes that are observed in humans with SOX2 haploinsufficiency, and (ii) the molecular analyses of these developing tissues and structures in the Sox2HYP mouse embryo will provide information regarding the specific function of Sox2 in the development of the brain and eye..
520 $a It was found that prior to E10.5, Sox2HYP optic primordia do not exhibit altered proliferation or apoptosis; however, abnormal neural retina pattering is observed at E10.5. Furthermore, the optic stalk is hypoplastic, exhibits increased apoptosis, and contributes to an abnormal OC orientation.
520 $a Also observed was an abnormal broadening of the posterior prechordal floor, a defect encompassing the tuberal hypothalamus and characterized by abnormal expression of genes within the sonic hedgehog (Shh) signaling pathway.
520 $a This work also illustrates Sox2's participation in secondary palatal development, specifically in the development of the palatal shelves. The palatal abnormality presents at E14.5, affects approximately two-thirds of Sox2HYP pups, and likely does not result from retrognathia.
520 $a Overall, the tested hypotheses have been proven, providing important information regarding SOX2 haploinsufficiency-related defects that involve the eyes, brain, and secondary palate.
590 $a School code: 0153.
650 4 $a Developmental biology. $3 193434
650 4 $a Neurosciences. $3 211508
650 4 $a Genetics. $3 189015
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710 2 $a The University of North Carolina at Chapel Hill. $b Neurobiology. $3 708602
773 0 $t Dissertation Abstracts International $g 74-09B(E).
790 $a 0153
791 $a Ph.D.
792 $a 2013
793 $a English
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3562758