scholarly journals Comparative Mapping of the Region of Human Chromosome 7 Deleted in Williams Syndrome

1999 ◽  
Vol 9 (5) ◽  
pp. 428-436 ◽  
Author(s):  
Udaya DeSilva ◽  
Hillary Massa ◽  
Barbara J. Trask ◽  
Eric D. Green
Keyword(s):  
Human Chromosome ◽  
Mouse Chromosome ◽  
Williams Syndrome ◽  
Nonhuman Primates ◽  
Physical Map ◽  
Artificial Chromosome ◽  
Genomic Region ◽  
Chromosome 7 ◽  
Fish Analysis ◽  
Chromosome 5

Williams syndrome (WS) is a complex developmental disorder resulting from the deletion of a large (∼1.5–2 Mb) segment of human chromosome 7q11.23. Physical mapping studies have revealed that this deleted region, which contains a number of known genes, is flanked by several large, nearly identical blocks of DNA. The presence of such highly related DNA segments in close physical proximity to one another has hampered efforts to elucidate the precise long-range organization of this segment of chromosome 7. To gain insight about the structure and evolutionary origins of this important and complex genomic region, we have constructed a fully contiguous bacterial artificial chromosome (BAC) and P1-derived artificial chromosome (PAC) contig map encompassing the corresponding region on mouse chromosome 5. In contrast to the difficulties encountered in constructing a clone-based physical map of the human WS region, the BAC/PAC-based map of the mouse WS region was straightforward to construct, with no evidence of large duplicated segments, such as those encountered in the human WS region. To confirm this difference, representative human and mouse BACs were used as probes for performing fluorescence in situ hybridization (FISH) to metaphase and interphase chromosomes. Human BACs derived from the nonunique portion of the WS region hybridized to multiple, closely spaced regions on human chromosome 7q11.23. In contrast, corresponding mouse BACs hybridized to a single site on mouse chromosome 5. Furthermore, FISH analysis revealed the presence of duplicated segments within the WS region of various nonhuman primates (chimpanzee, gorilla, orangutan, and gibbon). Hybridization was also noted at the genomic locations corresponding to human chromosome 7p22 and 7q22 in human, chimpanzee, and gorilla, but not in the other animal species examined. Together, these results indicate that the WS region is associated with large, duplicated blocks of DNA on human chromosome 7q11.23 as well as the corresponding genomic regions of other nonhuman primates. However, such duplications are not present in the mouse.

scholarly journals The Epimorphin Gene Is Highly Conserved among Humans, Mice, and Rats and Maps to Human Chromosome 7, Mouse Chromosome 5, and Rat Chromosome 12

Genomics ◽  
1996 ◽  
Vol 37 (3) ◽  
pp. 386-389 ◽  
Author(s):  
Hongbin Zha ◽  
Elaine F. Remmers ◽  
Claude Szpirer ◽  
Josiane Szpirer ◽  
Heying Zhang ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Mouse Chromosome ◽  
Chromosome 7 ◽  
Chromosome 12 ◽  
Chromosome 5 ◽  
Human Chromosome 7

Genomic Organization of the Genes Gtf2ird1, Gtf2i, and Ncf1 at the Mouse Chromosome 5 Region Syntenic to the Human Chromosome 7q11.23 Williams Syndrome Critical Region

Genomics ◽  
2002 ◽  
Vol 79 (1) ◽  
pp. 137-143 ◽  
Author(s):  
Dashzeveg Bayarsaihan ◽  
Judit Dunai ◽  
John M. Greally ◽  
Kazuhiko Kawasaki ◽  
Kenta Sumiyama ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Mouse Chromosome ◽  
Williams Syndrome ◽  
Critical Region ◽  
Genomic Organization ◽  
Chromosome 5

scholarly journals The Mouse Clock Locus: Sequence and Comparative Analysis of 204 Kb from Mouse Chromosome 5

2000 ◽  
Vol 10 (12) ◽  
pp. 1928-1940
Author(s):  
Lisa D. Wilsbacher ◽  
Ashvin M. Sangoram ◽  
Marina P. Antoch ◽  
Joseph S. Takahashi
Keyword(s):  
Sequence Analysis ◽  
Mouse Chromosome ◽  
Genomic Sequence ◽  
Sequence Data ◽  
Artificial Chromosome ◽  
Genomic Region ◽  
Molecular Techniques ◽  
Comparative Genomic ◽  
Chromosome 5 ◽  
Helix Loop Helix

The Clock gene encodes a basic helix-loop-helix (bHLH)–PAS transcription factor that regulates circadian rhythms in mice. We previously cloned Clock in mouse and human using a battery of behavioral and molecular techniques, including shotgun sequencing of two bacterial artificial chromosome (BAC) clones. Here we report the finished sequence of a 204-kb region from mouse chromosome 5. This region contains the complete loci for the Clock andTpardl (pFT27) genes, as well as the 3′ partial locus of the Neuromedin U gene; sequence analysis also suggests the presence of two previously unidentified genes. In addition, we provide a comparative genomic sequence analysis with the syntenic region from human chromosome 4. Finally, a new BAC transgenic line indicates that the genomic region that is sufficient for rescue of the Clock mutant phenotype is no greater than 120 kb and tightly flanks the 3′ end of the Clockgene.[The sequence data reported in this paper have been submitted to the GenBank data library under accession no. AF146793.]

scholarly journals The gene coding for the p68 calcium-binding protein is localised to bands q32?q34 of human chromosome 5, and to mouse chromosome 11

1989 ◽  
Vol 82 (3) ◽  
pp. 234-238 ◽  
Author(s):  
Adelina A. Davies ◽  
Stephen E. Moss ◽  
Mark R. Crompton ◽  
Tania A. Jones ◽  
Nigel K. Spurr ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Mouse Chromosome ◽  
Calcium Binding ◽  
Binding Protein ◽  
Calcium Binding Protein ◽  
Chromosome 11 ◽  
Chromosome 5 ◽  
Gene Coding ◽  
Mouse Chromosome 11 ◽  
Human Chromosome 5

scholarly journals The H19 Differentially Methylated Region Marks the Parental Origin of a Heterologous Locus without Gametic DNA Methylation

2004 ◽  
Vol 24 (9) ◽  
pp. 3588-3595 ◽  
Author(s):  
Kye-Yoon Park ◽  
Elizabeth A. Sellars ◽  
Alexander Grinberg ◽  
Sing-Ping Huang ◽  
Karl Pfeifer
Keyword(s):  
Dna Methylation ◽  
Mouse Chromosome ◽  
Germ Line ◽  
Transcriptional Silencing ◽  
Chromosome 7 ◽  
Differentially Methylated Region ◽  
Parental Origin ◽  
Imprinted Genes ◽  
Chromosome 5 ◽  
The Third

ABSTRACT Igf2 and H19 are coordinately regulated imprinted genes physically linked on the distal end of mouse chromosome 7. Genetic analyses demonstrate that the differentially methylated region (DMR) upstream of the H19 gene is necessary for three distinct functions: transcriptional insulation of the maternal Igf2 allele, transcriptional silencing of paternal H19 allele, and marking of the parental origin of the two chromosomes. To test the sufficiency of the DMR for the third function, we inserted DMR at two heterologous positions in the genome, downstream of H19 and at the alpha-fetoprotein locus on chromosome 5. Our results demonstrate that the DMR alone is sufficient to act as a mark of parental origin. Moreover, this activity is not dependent on germ line differences in DMR methylation. Thus, the DMR can mark its parental origin by a mechanism independent of its own DNA methylation.

A 2.8 megabase YAC contig spanning D8S339, which is tightly linked to the Werner syndrome locus

Genome ◽  
1997 ◽  
Vol 40 (1) ◽  
pp. 77-83
Author(s):  
R. Bruskiewich ◽  
M. Schertzer ◽  
S. Wood
Keyword(s):  
Human Chromosome ◽  
Genetic Marker ◽  
Yeast Artificial Chromosome ◽  
Werner Syndrome ◽  
Physical Map ◽  
Artificial Chromosome ◽  
Sequence Tagged Sites ◽  
Yeast Artificial Chromosome Contig ◽  
Yac Contig ◽  
Chromosome 8P

A number of gene loci, including the locus for Werner syndrome (WRN), map to proximal human chromosome 8p near the genetic marker D8S339. In this report, we present a long range physical map of an approximately 2.8 megabase yeast artificial chromosome contig centred on D8S339. In this map, we localize the WRN-linked polymorphic sequence-tagged sites (STS) D8S339 and D8S1055, as well as a novel polymorphic STS, D8S2297. We also refine the positions of three known gene loci, GTF2E2, GSR, and PPP2CB, relative to the location of WRN within the map.Key words: WRN, GTF2E2, GSR, PPP2CB, physical map, human chromosome 8p.

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