Publications by authors named "Charlotte N Henrichsen"

The genetic dissection of the phenotypes associated with Williams-Beuren Syndrome (WBS) is advancing thanks to the study of individuals carrying typical or atypical structural rearrangements, as well as in vitro and animal studies. However, little is known about the global dysregulations caused by the WBS deletion. We profiled the transcriptomes of skin fibroblasts from WBS patients and compared them to matched controls.

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Ascertaining when and where genes are expressed is of crucial importance to understanding or predicting the physiological role of genes and proteins and how they interact to form the complex networks that underlie organ development and function. It is, therefore, crucial to determine on a genome-wide level, the spatio-temporal gene expression profiles at cellular resolution. This information is provided by colorimetric RNA in situ hybridization that can elucidate expression of genes in their native context and does so at cellular resolution.

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A preliminary understanding into the phenotypic effect of DNA segment copy number variation (CNV) is emerging. These rearrangements were demonstrated to influence, in a somewhat dose-dependent manner, the expression of genes that map within them. They were also shown to modify the expression of genes located on their flanks and sometimes those at a great distance from their boundary.

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The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying disease-causing genes. Here, we describe the breakpoint mapping of a de novo balanced translocation t(7;12)(q11.22;q14.

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Article Synopsis
  • - The cattle genome was sequenced to enhance the understanding of ruminant biology and evolution, containing at least 22,000 genes with 14,345 orthologs shared across seven mammal species.
  • - Certain regions in the cattle genome have a higher density of segmental duplications, indicating unique evolutionary changes, particularly in genes linked to lactation and immune responses.
  • - This genome sequence serves as a valuable resource for studying mammalian evolution and improving livestock genetics, which can lead to better milk and meat production.
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Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has been put into the identification and mapping of regions that vary in copy number among seemingly normal individuals in humans and a number of model organisms, using bioinformatics or hybridization-based methods. These have allowed uncovering associations between copy number changes and complex diseases in whole-genome association studies, as well as identify new genomic disorders.

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Copy number variation (CNV) is a key source of genetic diversity, but a comprehensive understanding of its phenotypic effect is only beginning to emerge. We have generated a CNV map in wild mice and classical inbred strains. Genome-wide expression data from six major organs show not only that expression of genes within CNVs tend to correlate with copy number changes, but also that CNVs influence the expression of genes in their vicinity, an effect that extends up to half a megabase.

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The first extensive catalog of structural human variation was recently released. It showed that large stretches of genomic DNA that vary considerably in copy number were extremely abundant. Thus it is conceivable that they play a major role in functional variation.

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Article Synopsis
  • - The study reports on experiments analyzing a targeted 1% of the human genome during the ENCODE Project's pilot phase, providing crucial insights into human genome function.
  • - Findings reveal that the human genome is largely transcribed, with evidence showing that most genomic bases contribute to various types of transcripts, including those that do not code for proteins.
  • - Enhanced understanding of transcription regulation, chromatin structure, and evolutionary insights from comparisons between species help define the functional landscape of the human genome, guiding future research in genome characterization.
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Article Synopsis
  • The report analyzes 399 protein-coding genes from the human genome, revealing many previously unidentified transcript fragments (RACEfrags) that are specific to certain tissues or cell lines.
  • About 81.5% of the tested genes showed these RACEfrags, which can be located both upstream and within the gene boundaries, with many being significantly large and potentially overlapping neighboring genes.
  • The findings challenge existing knowledge about gene structure, regulatory regions, and noncoding DNA, and they might help in better understanding disease-related genetic variations.
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Genomic imbalance is a common cause of phenotypic abnormalities. We measured the relative expression level of genes that map within the microdeletion that causes Williams-Beuren syndrome and within its flanking regions. We found, unexpectedly, that not only hemizygous genes but also normal-copy neighboring genes show decreased relative levels of expression.

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Gratacos et al. [2001: Cell 106:367-379] described an interstitial duplication dup(15)q24q26 (DUP25) in patients with anxiety disorders; this duplication was found in approximately 90% of patients and in 7% of controls. In order to determine if DUP25 is present in additional individuals susceptible to panic attacks, we tested 44 patients with anxiety disorders, using probes 251c23 and 216c14 mapping in the 15q24 and 15q26 region.

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