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Comparative and functional genomic a...

Wilson, Michael Davies.

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Comparative and functional genomic analysis of a gene dense region at chromosome 7q22.

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Comparative and functional genomic analysis of a gene dense region at chromosome 7q22./
作者:	Wilson, Michael Davies.
面頁冊數:	245 p.
附註:	Source: Dissertation Abstracts International, Volume: 66-10, Section: B, page: 5219.
Contained By:	Dissertation Abstracts International66-10B.
標題:	Biology, Genetics. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=NR07064
ISBN:	9780494070642

Comparative and functional genomic analysis of a gene dense region at chromosome 7q22.
Wilson, Michael Davies.

Comparative and functional genomic analysis of a gene dense region at chromosome 7q22. - 245 p.

Source: Dissertation Abstracts International, Volume: 66-10, Section: B, page: 5219.

Thesis (Ph.D.)--University of Victoria (Canada), 2005.

Genomic sequencing, comparative genomic analysis and mouse transgenics were used to investigate two regions of human chromosome 7 that are associated with chromosomal loss, duplication and disease. Williams-Beuren syndrome (WBS) is a complex neuro-developmental disorder arising from a microdeletion at chromosome band 7q11.23 that results in a hemizygous condition for a number of genes. Within this region we completely characterized 200 kilobases (kb) of genomic DNA sequence containing the genes LIMK1, WBSCR1 and RFC2. The orthologous region on mouse chromosome 5 was sequenced and compared to 7q11.23. A previously unidentified gene, ( WBSCR5), was found in the region commonly deleted in WBS patients. Expression patterns and alternative splice variants of WBSCR5 and WBSCR1 were determined.

ISBN: 9780494070642Subjects--Topical Terms:

1017730
Biology, Genetics.

Comparative and functional genomic analysis of a gene dense region at chromosome 7q22.
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245 1 0 $a Comparative and functional genomic analysis of a gene dense region at chromosome 7q22.
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500 $a Source: Dissertation Abstracts International, Volume: 66-10, Section: B, page: 5219.
502 $a Thesis (Ph.D.)--University of Victoria (Canada), 2005.
520 $a Genomic sequencing, comparative genomic analysis and mouse transgenics were used to investigate two regions of human chromosome 7 that are associated with chromosomal loss, duplication and disease. Williams-Beuren syndrome (WBS) is a complex neuro-developmental disorder arising from a microdeletion at chromosome band 7q11.23 that results in a hemizygous condition for a number of genes. Within this region we completely characterized 200 kilobases (kb) of genomic DNA sequence containing the genes LIMK1, WBSCR1 and RFC2. The orthologous region on mouse chromosome 5 was sequenced and compared to 7q11.23. A previously unidentified gene, ( WBSCR5), was found in the region commonly deleted in WBS patients. Expression patterns and alternative splice variants of WBSCR5 and WBSCR1 were determined.
520 $a Chromosome 7q22 has been the focus of many cytogenetic and molecular studies aimed at delineating regions commonly deleted in myeloid leukemias and myelodysplastic syndromes. We have compared a gene dense, G-C rich sub-region of 7q22 to the orthologous region on mouse chromosome 5. A physical map of 640 kb of genomic DNA from mouse chromosome 5 was derived from a series of overlapping bacterial artificial chromosomes (BAC). A 296 kb segment from the physical map, spanning from acetylcholine esterase (Ache) to transferrin receptor 2 (Tfr2), was compared to 267 kb of human sequence. A conserved linkage of twelve genes including arsenite resistance 2 (Ars2) and zonadhesin (Zan) was identified.
520 $a The paired immunoglobulin-like receptor locus (PILR) at 7q22 shares homology with 7q11.23 and contains the inhibiting PILRA and activating PILRB receptors. These receptors are expressed in myeloid cells and have been established as novel regulators of innate immunity. Expression analysis of the human PILRB gene revealed it has been dramatically affected by the insertion of a segmental duplication that is paralogous to the sequence flanking the WBS critical region. Sequencing and analysis of the orthologous region in the mouse genome revealed a previously unreported paired immunoglobulin like receptor gene ( Pilrb2). An evolutionary analysis of the PILR locus in six mammalian genomes revealed that this locus is dynamically evolving by means of gene duplication, insertation, mutation and conversion. (Abstract shortened by UMI.)
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