| Title |
Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes
|
|---|---|
| Published in |
Human Genetics, November 1998
|
| DOI | 10.1007/s004390050874 |
| Pubmed ID | |
| Authors |
X. Meng, Xiaojun Lu, Zhizhong Li, Eric D. Green, Hillary Massa, Barbara J. Trask, Colleen A. Morris, Mark T. Keating |
| Abstract |
Williams syndrome (WS) is a contiguous gene deletion disorder caused by haploinsufficiency of genes at 7q11.23. We have shown that hemizygosity of elastin is responsible for one feature of WS, supravalvular aortic stenosis (SVAS). We have also implicated LIM-kinase 1 hemizygosity as a contributing factor to impaired visual-spatial constructive cognition in WS. However, the common WS deletion region has not been completely characterized, and genes for additional features of WS, including mental retardation, infantile hypercalcemia, and unique personality profile, are yet to be discovered. Here, we present a physical map encompassing 1.5 Mb DNA that is commonly deleted in individuals with WS. Fluorescence in situ hybridization analysis of 200 WS individuals shows that WS individuals have the consistent deletion interval. In addition, we identify three novel genes from the common deletion region: WS-betaTRP, WS-bHLH, and BCL7B. WS-betaTRP has four putative beta-transducin (WD40) repeats, and WS-bHLH is a novel basic helix-loop-helix leucine zipper (bHLHZip) gene. BCL7B belongs to a novel family of highly conserved genes. We describe the expression profile and genomic structure for each of these genes. Hemizygous deletion of one or more of these genes may contribute to developmental defects in WS. |
Mendeley readers
The data shown below were compiled from readership statistics for 35 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 3 | 9% |
| Unknown | 32 | 91% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 17% |
| Student > Bachelor | 6 | 17% |
| Student > Master | 5 | 14% |
| Student > Doctoral Student | 3 | 9% |
| Researcher | 2 | 6% |
| Other | 7 | 20% |
| Unknown | 6 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 20% |
| Agricultural and Biological Sciences | 7 | 20% |
| Medicine and Dentistry | 7 | 20% |
| Neuroscience | 2 | 6% |
| Psychology | 1 | 3% |
| Other | 2 | 6% |
| Unknown | 9 | 26% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 08 July 2021.
All research outputs
#5,446,629
of 25,374,647 outputs
Outputs from Human Genetics
#515
of 2,957 outputs
Outputs of similar age
#5,764
of 41,240 outputs
Outputs of similar age from Human Genetics
#2
of 19 outputs
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We're also able to compare this research output to 19 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 68% of its contemporaries.