Human Chromosome 7: DNA Sequence and Biology

Scherer, Stephen W.; Cheung, Joseph; MacDonald, Jeffrey R.; Osborne, Lucy R.; Nakabayashi, Kazuhiko; Herbrick, Jo Anne; Carson, Andrew R.; Parker-Katiraee, Layla; Skaug, Jennifer; Khaja, Razi; Zhang, Junjun; Hudek, Alexander K.; Li, Martin; Haddad, May Hobeika; Duggan, Gavin E.; Fernandez, Bridget A.; Kanematsu, Emiko; Gentles, S.; Christopoulos, Constantine; Choufani, Sanaa; Kwasnicka, Dorota A.; Zheng, Xiangqun H.; Lai, Zhongwu; Nusskern, Deborah; Zhang, Qing; Gu, Zhiping; Lu, Fu; Zeesman, Susan; Nowaczyk, Małgorzata J.M.; Teshima, Ikuko; Chitayat, David; Shuman, Cheryl; Weksberg, Rosanna; Zackai, Elaine H.; Grebe, Theresa A.; Cox, Sarah; Kirkpatrick, Susan J.; Rahman, Nazneen; Friedman, Jan M.; Heng, Henry H.Q.; Pelicci, Pier Giuseppe; Lo‐Coco, Francesco; Belloni, Elena; Shaffer, Lisa G.; Pober, Barbara R.; Morton, Cynthia C.; Gusella, James F.; Bruns, G. A. P.; Korf, Bruce R.; Quade, Bradley J.; Ligon, Azra H.; Ferguson, Heather; Higgins, Anne W.; Leach, Natalia T.; Herrick, Steven R.; Lemyre, Emmanuelle; Farra, Chantal; Kim, Hyung Goo; Summers, Anne; Gripp, Karen W.; Roberts, Wendy; Szatmári, Péter; Winsor, Elizabeth J.T.; Grzeschik, K.-H.; Teebi, Ahmed; Minassian, Berge A.; Kere, Juha; Armengol, Luis; Pujana, Miguel Ángel; Estivill, Xavier; Wilson, Michael D.; Koop, Ben F.; Tosi, Sabrina; Moore, Gudrun E.; Boright, Andrew P.; Zlotorynski, Eitan; Kerem, Batsheva; Kroisel, Peter M.; Petek, Erwin; Oscier, David; Mould, Sarah; Döhner, Hartmut; Döhner, Konstanze; Rommens, Johanna M.; Vincent, John B.; Venter, J. Craig; Li, Peter W.; Mural, Richard J.; Adams, Mark D.; Tsui, Lap Chee

doi:10.1126/science.1083423

Cited by 189 publications

(141 citation statements)

References 30 publications

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“…Chromosome 7q alterations resulting in SHFM reported thus far are summarized in Figure 3. 1,23,32 Two of our patients (1 and 2) had deletions of chromosome 7q21q22, including the genes DLX5, DLX6 and DSS1 known to have a function in SHFM1. In mice, Dlx transcription factors have been shown to have a key function in the development and morphogenesis of the limb skeleton.…”

Section: Review Of Literature and Discussionmentioning

confidence: 99%

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

et al. 2009

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We report on three patients with split hand/foot malformation type 1 (SHFM1). We detected a deletion in two patients and an inversion in the third, all involving chromosome 7q21q22. We performed conventional chromosomal analysis, array comparative genomic hybridization and fluorescence in situ hybridization. Both deletions included the known genes associated with SHFM1 (DLX5, DLX6 and DSS1), whereas in the third patient one of the inversion break points was located just centromeric to these genes. These observations confirm that haploinsufficiency due to either a simultaneous deletion of these genes or combined downregulation of gene expression due to a disruption in the region between these genes and a control element could be the cause of the syndrome. We review previously reported studies that support this hypothetical mechanism.

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Section: Review Of Literature and Discussionmentioning

confidence: 99%

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

et al. 2009

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“…In part, these duplications are either shaped as tandem repetitions or they derived as duplication from other genomic regions of chromosome 7 [96]. In general, chromosome-specific LCRs appear to be enriched in centromeric-and subtelomere regions [99,123].…”

Section: The Low Copy Repeats (Lcr) Of the Wbs Regionmentioning

confidence: 99%

“…These genes are mainly segmental duplications of other regions on chromosome 7 [63,77,96]. The ancestral gene of STAG3 and GATS are located on chromosome 7q22, the transcriptionally active gene of PMS2 is positioned on the short arm of chromosome 7 (7p22) [63,77].…”

Section: Genomic Region Of Block Amentioning

confidence: 99%

The genomic basis of the Williams – Beuren syndrome

Schubert

2008

Cell. Mol. Life Sci.

214

161

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. The Williams-Beuren syndrome is a genomic disorder (prevalence: 1/7,500 to 1/20,000), caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Typical symptoms comprise supravalvular aortic stenosis, mental retardation, overfriendliness and visuospatial impairment. The common deletion sizes range of 1.5–1.8 mega base pairs (Mb), encompassing app. 28 genes. For a few genes, a genotype-phenotype correlation has been established. The best-explored gene within this region is the elastin gene; its haploinsufficiency causes arterial stenosis. The region of the Williams-Beuren syndrome consists of a single copy gene region (~1.2 Mb) flanked by repetitive sequences – Low Copy Repeats (LCR). The deletions arise as a consequence of misalignment of these repetitive sequences during meiosis and a following unequal crossing over due to high similarity of LCRs. This review presents an overview of the Williams-Beuren syndrome region considering the genomic assembly, chromosomal rearrangements and their mechanisms (i.e. deletions, duplications, inversions) and evolutionary and historical aspects.

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“…They appear to exert functional roles directly as ncRNAs and some have been identified to function as genetic regulators or riboregulators (Erdmann et al, 2001). Recent genomic and transcriptomic projects have unraveled an unexpectedly large number of large ncRNAs in the human (Scherer et al, 2003;Ota et al, 2004) and mouse (Okazaki et al, 2002;Carninci et al, 2005) genomes. The FANTOM consortium annotated 33 409 murine transcriptional units representing 60 770 full-length cDNA sequences.…”

Section: Introductionmentioning

confidence: 99%