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Genetic regulation of bone formation...

Ho, Andrew Manlap.

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Genetic regulation of bone formation, calcification, and arthritis.

Record Type:	Electronic resources : Monograph/item
Title/Author:	Genetic regulation of bone formation, calcification, and arthritis./
Author:	Ho, Andrew Manlap.
Description:	129 p.
Notes:	Source: Dissertation Abstracts International, Volume: 62-01, Section: B, page: 0055.
Contained By:	Dissertation Abstracts International62-01B.
Subject:	Biology, Genetics. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3000042
ISBN:	0493086765

Genetic regulation of bone formation, calcification, and arthritis.
Ho, Andrew Manlap.

Genetic regulation of bone formation, calcification, and arthritis. - 129 p.

Source: Dissertation Abstracts International, Volume: 62-01, Section: B, page: 0055.

Thesis (Ph.D.)--Stanford University, 2001.

The vertebrate skeleton mediates many biologic functions. A better understanding of skeletal development and maintenance is important to human health and disease. In this dissertation, I study bone formation, calcification, and arthritis through two classical mouse skeletal traits: short ear and progressive ankylosis. The short ear (se ) locus encodes a Bone Morphogenetic Protein (BMP) family member, BMP5. One of the short ear mutants, seclv, contains a base mutation in Bmp5 that disrupts processing and maturation of the BMP5 protein. Since functional BMPs are dimeric, these unprocessed BMP5s are not only inactive themselves, but may bind and inactivate other related BMPs. Consistent with this proposed antimorphic mechanism, there are more severe phenotypes in the seclv mutants than in mutants completely lacking Bmp5. Many defects occur at muscle-bone interaction sites, suggesting that BMPs may be the endogenous signals that mediate bone formation in response to muscular stimulation. The identification of other Bmps that coexpress with Bmp5 at one of these sites further suggests that related BMPs may interact to promote bone growth in response to genetic and environmental cues. In this dissertation, I also describe how this forward genetic approach was used to study another mouse skeletal trait, progressive ankylosis (ank). ank mutants display many arthritic features including precocious calcification and joint stiffness. Chromosome walking and positional cloning revealed that the ank mutation is a nonsense mutation in a novel vertebrate-specific gene that is expressed in many tissues including articular surfaces of developing joints.

ISBN: 0493086765Subjects--Topical Terms:

1017730
Biology, Genetics.

Genetic regulation of bone formation, calcification, and arthritis.
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020 $a 0493086765
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100 1 $a Ho, Andrew Manlap. $3 1952606
245 1 0 $a Genetic regulation of bone formation, calcification, and arthritis.
300 $a 129 p.
500 $a Source: Dissertation Abstracts International, Volume: 62-01, Section: B, page: 0055.
500 $a Adviser: David M. Kingsley.
502 $a Thesis (Ph.D.)--Stanford University, 2001.
520 $a The vertebrate skeleton mediates many biologic functions. A better understanding of skeletal development and maintenance is important to human health and disease. In this dissertation, I study bone formation, calcification, and arthritis through two classical mouse skeletal traits: short ear and progressive ankylosis. The short ear (se ) locus encodes a Bone Morphogenetic Protein (BMP) family member, BMP5. One of the short ear mutants, seclv, contains a base mutation in Bmp5 that disrupts processing and maturation of the BMP5 protein. Since functional BMPs are dimeric, these unprocessed BMP5s are not only inactive themselves, but may bind and inactivate other related BMPs. Consistent with this proposed antimorphic mechanism, there are more severe phenotypes in the seclv mutants than in mutants completely lacking Bmp5. Many defects occur at muscle-bone interaction sites, suggesting that BMPs may be the endogenous signals that mediate bone formation in response to muscular stimulation. The identification of other Bmps that coexpress with Bmp5 at one of these sites further suggests that related BMPs may interact to promote bone growth in response to genetic and environmental cues. In this dissertation, I also describe how this forward genetic approach was used to study another mouse skeletal trait, progressive ankylosis (ank). ank mutants display many arthritic features including precocious calcification and joint stiffness. Chromosome walking and positional cloning revealed that the ank mutation is a nonsense mutation in a novel vertebrate-specific gene that is expressed in many tissues including articular surfaces of developing joints.
520 $a The ank gene encodes a multipass transmembrane protein that modulates cellular levels of pyrophosphate, a potent calcification inhibitor in skeleton and other tissues. A longstanding debate in rheumatology has been whether the calcium crystals in arthritic joints are primary causes of arthritis or secondary consequences of joint damage. The progressive ankylosis trait provides a clear example of a generalized arthritic syndrome that can be traced to primary defects in the control of mineralization in joints. This study provides a novel mechanism to investigate in the susceptibility and pathogenesis of human arthritis, and may lead to better classification, diagnosis, and treatment for this important human disease.
590 $a School code: 0212.
650 4 $a Biology, Genetics. $3 1017730
690 $a 0369
710 2 0 $a Stanford University. $3 754827
773 0 $t Dissertation Abstracts International $g 62-01B.
790 1 0 $a Kingsley, David M., $e advisor
790 $a 0212
791 $a Ph.D.
792 $a 2001
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3000042