Sequence-ready physical map of the mouse Chromosome 16 region with conserved synteny to the human Velocardiofacial syndrome region on 22q11.2

Lund, John E.; Roe, Bruce A.; Chen, Feng; Budarf, Marcia L.; Galili, Naomi; Riblet, Roy; Miller, Robert D.; Emanuel, Beverly S.; Reeves, Roger H.

doi:10.1007/s003359901019

Cited by 33 publications

(17 citation statements)

References 39 publications

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“…On the other hand, the map order given by a recent analysis of YAC clones is centromere ± Prkdc± D16Mit34 ± D16Mit56 ± D16Mit31 ± D16Mit74 ± D16Mit143 ± telomere (Lund et al, 1999). Moreover, D16Mit165 has been mapped distal to D16Mit74 (http://www.informatics.jax.org/searches/linkmap.cgi).…”

Section: Resultsmentioning

confidence: 99%

Variations in Prkdc encoding the catalytic subunit of DNA-dependent protein kinase (DNA-PKcs) and susceptibility to radiation-induced apoptosis and lymphomagenesis

Mori¹,

Matsumoto

Okumoto³

et al. 2001

Oncogene

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Section: Resultsmentioning

confidence: 99%

Variations in Prkdc encoding the catalytic subunit of DNA-dependent protein kinase (DNA-PKcs) and susceptibility to radiation-induced apoptosis and lymphomagenesis

Mori¹,

Matsumoto

Okumoto³

et al. 2001

Oncogene

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“…However, whenever high resolution mapping was performed, the evidence suggests that small intrachromosomal rearrangements may be the rule rather than an exception, as summarized by Carver and Stubbs (1997). Similar examples are a 10-cM region of homology between human 5q and mouse 11, which is split into at least 4 different segments (Watkins-Chow et al 1997), and a 2.5 Mbp region of MMU16 homologous to HSA 22q that is rearranged into three different blocks (Lund et al 1999;Puech et al 1997). Thus, intrachromosomal rearrangements of the type uncovered here seem to be quite common once they can be reliably detected.…”

Section: Small Intrachromosomal Rearrangements-more Common Than Thoughtmentioning

confidence: 99%

Comparative Maps of Human 19p13.3 and Mouse Chromosome 10 Allow Identification of Sequences at Evolutionary Breakpoints

et al. 2000

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A cosmid/bacterial artificial chromosome (BAC) contiguous (contig) map of human chromosome (HSA) 19p13.3 has been constructed, and over 50 genes have been localized to the contig. Genes and anonymous ESTs from ≈4000 kb of human 19p13.3 were placed on the central mouse chromosome 10 map by genetic mapping and pulsed-field gel electrophoresis (PFGE) analysis. A region of ∼2500 kb of HSA 19p13.3 is collinear to mouse chromosome (MMU) 10. In contrast, the adjacent ≈1200 kb are inverted. Two genes are located in a 50-kb region after the inversion on MMU 10, followed by a region of homology to mouse chromosome 17. The synteny breakpoint and one of the inversion breakpoints has been localized to sequenced regions in human <5 kb in size. Both breakpoints are rich in simple tandem repeats, including (TCTG)n, (CT)n, and (GTCTCT)n, suggesting that simple repeat sequences may be involved in chromosome breaks during evolution. The overall size of the region in mouse is smaller, although no large regions are missing. Comparing the physical maps to the genetic maps showed that in contrast to the higher-than-average rate of genetic recombination in gene-rich telomeric region on HSA 19p13.3, the average rate of recombination is lower than expected in the homologous mouse region. This might indicate that a hot spot of recombination may have been lost in mouse or gained in human during evolution, or that the position of sequences along the chromosome (telomeric compared to the middle of a chromosome) is important for recombination rates.

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“…The genes within the 22q11 deletion interval have been completely mapped and sequenced. Much of the corresponding region on mouse chromosome 16 (the murine DiGeorge chromosomal region, or mudgcr) has been mapped as well [Botta et al, 1997;Galili et al, 1997;Lund et al, 1999]. Despite extensive analysis of genes in this region, no single gene has been shown de®nitively to produce the malformations seen in 22q11 DS.…”

Section: Genes In the Deletion 22 Q 11/digeorge Critical Regionmentioning

confidence: 98%

Molecular determinants of neural crest migration

Maschhoff¹,

Baldwin

2000

Am. J. Med. Genet.

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Normal septation of the cardiac outflow tract requires migration of neural crest cells from the posterior rhombencephalon to the branchial arches and developing conotruncal endocardial cushions. Proper migration of these cells is mediated by a variety of molecular cues. Adhesion molecules, such as integrins, are involved in the interaction of neural crest cells with the extracellular matrix, while cadherins allow neural crest cells to interact with each other during their migration. Pax3 appears to be important for proliferation of neural crest precursors, and connexin-43-mediated gap junction communication influences the rate of migration. Endothelin and its receptors are required for normal postmigratory differentiation. Platelet-derived growth factor and retinoic acid have roles in neural crest migration and differentiation as well. Finally, the similarity between the cardiovascular malformations seen in the DiGeorge and 22q11 deletion syndromes and animal models of neural crest deficiency has led to the examination of the role of genes located near or within the DiGeorge critical region in neural crest migration.

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Sequence-ready physical map of the mouse Chromosome 16 region with conserved synteny to the human Velocardiofacial syndrome region on 22q11.2

Cited by 33 publications

References 39 publications

Variations in Prkdc encoding the catalytic subunit of DNA-dependent protein kinase (DNA-PKcs) and susceptibility to radiation-induced apoptosis and lymphomagenesis

Variations in Prkdc encoding the catalytic subunit of DNA-dependent protein kinase (DNA-PKcs) and susceptibility to radiation-induced apoptosis and lymphomagenesis

Comparative Maps of Human 19p13.3 and Mouse Chromosome 10 Allow Identification of Sequences at Evolutionary Breakpoints

Molecular determinants of neural crest migration

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