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Structure and evolution of the peric...

Schueler, Mary Graves.

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Structure and evolution of the pericentromeric region of the human X chromosome.

Record Type:	Language materials, printed : Monograph/item
Title/Author:	Structure and evolution of the pericentromeric region of the human X chromosome./
Author:	Schueler, Mary Graves.
Description:	149 p.
Notes:	Adviser: Huntington F. Willard.
Contained By:	Dissertation Abstracts International63-08B.
Subject:	Biology, Genetics. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3061317
ISBN:	0493770097

Structure and evolution of the pericentromeric region of the human X chromosome.
Schueler, Mary Graves.

Structure and evolution of the pericentromeric region of the human X chromosome. - 149 p.

Adviser: Huntington F. Willard.

Thesis (Ph.D.)--Case Western Reserve University (Health Sciences), 2002.

The pericentromeric regions of human chromosomes remain largely uncharacterized. Efforts to map and sequence the human genome have excluded the junctions joining expressed sequences on the chromosome arms with the large alpha satellite arrays that characterize human centromeres. While it is a broadly held belief that pericentromeric regions are densely repetitive and gene poor, the underlying genetic cause of diseases mapping to these regions cannot be adequately determined without first describing their DNA content.

ISBN: 0493770097Subjects--Topical Terms:

1017730
Biology, Genetics.

Structure and evolution of the pericentromeric region of the human X chromosome.
LDR:02981nam 2200289 a 45 001 927233
005 20110425
008 110425s2002 eng d
020 $a 0493770097
035 $a (UnM)AAI3061317
035 $a AAI3061317
040 $a UnM $c UnM
100 1 $a Schueler, Mary Graves. $3 1250784
245 1 0 $a Structure and evolution of the pericentromeric region of the human X chromosome.
300 $a 149 p.
500 $a Adviser: Huntington F. Willard.
500 $a Source: Dissertation Abstracts International, Volume: 63-08, Section: B, page: 3566.
502 $a Thesis (Ph.D.)--Case Western Reserve University (Health Sciences), 2002.
520 $a The pericentromeric regions of human chromosomes remain largely uncharacterized. Efforts to map and sequence the human genome have excluded the junctions joining expressed sequences on the chromosome arms with the large alpha satellite arrays that characterize human centromeres. While it is a broadly held belief that pericentromeric regions are densely repetitive and gene poor, the underlying genetic cause of diseases mapping to these regions cannot be adequately determined without first describing their DNA content.
520 $a Characteristics of centromere/non-centromere transitions are not known. Description of such regions will define the boundary or potential overlap between those sequences causative of gene-based disease and those involved in centromere structure and function. It is known that large arrays of alpha satellite are present at the primary constriction of all human chromosomes. It is not known, however, what type of DNA surrounds these arrays and joins them with the chromosome arms. All sequences lying within the primary constriction are candidates for centromere function. Lastly, physical description of the DNA content and organization of these regions will provide the necessary molecular data upon which to debate mechanisms of genome evolution.
520 $a We have used a genomic approach to describe the DNA content of the pericentromeric region of the human X chromosome. In so doing, we have mapped several genes within Xq11-q12 YAC and BAC contigs that are positional candidates for X-linked diseases mapping to the region. In addition, we have constructed the first BAC contig spanning the junction between expressed sequences and a large, chromosome specific alpha satellite array. The contig reveals not only the content and structure of the region, but has enabled us to test longstanding hypotheses regarding alpha satellite homogenization. Lastly, we utilized the presence of transposable elements embedded within alpha satellite to test our hypothesis predicting specific events in the evolution of the primate centromere.
590 $a School code: 0499.
650 4 $a Biology, Genetics. $3 1017730
690 $a 0369
710 2 0 $a Case Western Reserve University (Health Sciences). $3 1250782
773 0 $t Dissertation Abstracts International $g 63-08B.
790 $a 0499
790 1 0 $a Willard, Huntington F., $e advisor
791 $a Ph.D.
792 $a 2002
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3061317