A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1

Fantes, Judy; Oghene, Kathy; Boyle, Shelagh; Danes, Sarah; Fletcher, Judy; Bruford, Elspeth A.; Williamson, Kathy; Seawright, Anne; Schedl, Andreas; Hanson, Isabel; Zehetner, Günther; Bhogal, R.; Lehrach, Hans; Gregory, Simon G.; Williams, Jon I.; Little, Peter; Sellar, Grant C.; Hoovers, J. M. N.; Mannens, Marcel; Weissenbach, Jean; Junien, Claudine; Heyningen, Veronica van; Bickmore, Wendy A.

doi:10.1016/0888-7543(95)80045-n

Cited by 56 publications

(49 citation statements)

References 48 publications

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“…Our finding, while located near the 3′ end of PAX6 likely results in haploinsufficieny as previously seen in similar deletions and rearrangements (Lauderdale et al 2000;Fantes et al 1995). Deletions in this region have been shown to abolish PAX6 expression and cause aniridia in patients due to loss of enhancers and a downstream regulatory region (DRR) (Lauderdale et al 2000;Crolla and van Heyningen 2002).…”

Section: Discussionsupporting

confidence: 58%

Pax6 3′ deletion results in aniridia, autism and mental retardation

et al. 2008

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The PAX6 gene is a transcription factor expressed early in development, predominantly in the eye, brain and gut. It is well known that mutations in PAX6 may result in aniridia, Peter's anomaly and kertatisis. Here, we present mutation analysis of a patient with aniridia, autism and mental retardation. We identified and characterized a 1.3 Mb deletion that disrupts PAX6 transcriptional activity and deletes additional genes expressed in the brain. Our findings provide continued evidence for the role of PAX6 in neural phenotypes associated with aniridia.

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Section: Discussionsupporting

confidence: 58%

Pax6 3′ deletion results in aniridia, autism and mental retardation

et al. 2008

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“…Consequently, it has been proposed as a possible candidate gene for the mental retardation phenotype associated with WAGR. The deletion observed in our patient extends telomerically to F1238 (interval XV, Fantes et al, 1995b) and may have also included the BDNF (brain-derived neurotrophic locus), which has also been implicated in the mental retardation phenotype (Hanson et al, 1993;Fantes et al, 1995b). Our patient, however, was not mentally retarded, so detailed mapping of the distal breakpoint may be significant in defining the location of other possible retardation associated gene(s).…”

Section: Discussionmentioning

confidence: 88%

“…A minimum of 5 metaphases were scored after hybridisation with each probe or probe combination. Details of the physical location of the 11p cosmids used and their relative distances have been published in Fantes et al (1995b).…”

Section: Cytogenetic and Fish Investigationsmentioning

confidence: 99%

“…FISH protocols were performed using lymphocyte and lymphoblastoid cell culture metaphases and summarised as follows: the 11p cosmids (telomeric -> centromeric, i.e., CO8160, F1238, FO2121, FAT5 (PAX6), B2.1 (WT1), c1-11-458 and c1-11-474 -(see Fantes et al 1995b, for detailed mapping information)), and the 11p sub-telomeric YAC, HTY3219 (kindly provided by Helen Donis-Keller), were digoxigenin labelled using a nick-translation kit following the manufacturer's protocol (Boehringer Mannheim). In addition, a directly labelled (fluorogreen, Amersham) alphoid centromere 11 specific repeat probe (D11Z1) was used to identify the normal and der(11)s, respectively.…”

Section: Cytogenetic and Fish Investigationsmentioning

confidence: 99%

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FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region

et al. 2000

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Conventional cytogenetic studies on a female infant with sporadic aniridia revealed what appeared to be a balanced de novo t(11;13) (p13;q33) translocation. Fluorescence in situ hybridization (FISH) investigations, however, detected the presence of a cryptic 11p13p14 deletion which included the WAGR region and involved approximately 7.5 Mb of DNA, including the PAX6 and WT1 genes. These results account for the patient's aniridia, and place her at high risk for developing Wilms' tumour. The absence of mental retardation in the patient suggests that the position of the distal breakpoint may also help to refine the mental retardation locus in the WAGR contiguous gene syndrome (Wilms', aniridia, genital anomalies and mental retardation).

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“…Fluorescence in situ hybridization was performed using the Oncor Coatasome paint kit (Fantes et al, 1995).…”

Section: Cytogenetic Analysismentioning

confidence: 99%

Human squamous cell carcinomas lose a mortality gene from chromosome 6q14.3 to q15

et al. 2003

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Normal human keratinocytes possess a finite replicative lifespan. Most advanced squamous cell carcinomas (SCCs), however, are immortal, a phenotype that is associated with p53 and INK4A dysfunction, high levels of telomerase and loss of heterozygosity (LOH) at several genetic loci, suggestive of the dysfunction of other mortality genes. We show here that human chromosome 6 specifically reduces the proliferation or viability of a human SCC line, BICR31, possessing LOH across the chromosome. This was determined by an 88% reduction in colony yield (Po0.001), following the reintroduction of an intact normal chromosome 6 by monochromosome transfer. Deletion analysis of immortal segregants using polymorphic markers revealed the loss of a 2.9 Mbp interval, centred on marker D6S1045 at 6q14.3-q15, in 6/ 19 segregants. Crucially, allelic losses of this region were not identified in control hybrids constructed between chromosome 6 and the BICR6 SCC cell line that is heterozygous for chromosome 6 and which showed no reduction in colony formation relative to the control chromosome transfers. This indicates that the minimally deleted region at D6S1045 is not the result of fragile sites, a recombination hot spot, or a feature of the monochromosome transfer technique. LOH of D6S1045 was found in 2/9 immortal SCC lines and was part of a minimally deleted region of line BICR19. Furthermore, allelic imbalance, consistent with LOH, was detected in 3/ 17 advanced SCCs of the tongue. These results suggest the existence of a suppressor of SCC immortality and tumour development at chromosome 6q14.3-q15, which is important to a subset of human SCCs.

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A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1

Cited by 56 publications

References 48 publications

Pax6 3′ deletion results in aniridia, autism and mental retardation

Pax6 3′ deletion results in aniridia, autism and mental retardation

FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region

Human squamous cell carcinomas lose a mortality gene from chromosome 6q14.3 to q15

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