| Title |
Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human Chromosome 7q11.23
|
|---|---|
| Published in |
Mammalian Genome, February 2014
|
| DOI | 10.1007/s003350010166 |
| Pubmed ID | |
| Authors |
Duane W. Martindale, Michael D. Wilson, Diana Wang, Robert D. Burke, Xianming Chen, Vincent Duronio, Ben F. Koop |
| Abstract |
Williams syndrome (WS) is a complex neurodevelopmental disorder arising from a microdeletion at Chr band 7q11.23, which results in a hemizygous condition for a number of genes. Within this region we have completely characterized 200 kb containing the genes LIMK1, WBSCR1, and RFC2. Evidence was also found for WBSCR5 in this region, but not the previously proposed genes WSCR2 and WSCR6. The syntenic region in mouse was also sequenced (115 kb) and characterized, and a comparative sequence analysis with a percent identity plot (PIP) easily allowed us to identify coding exons. This genomic region is GC rich (50.1% human, 49.9% mouse) and contains an unusually high abundance of repetitive elements consisting primarily of Alu (45.4%, one of the highest levels identified to date) in human, and the B family of SINES (30.6% of the total sequence) in mouse. WBSCR1 corresponds to eukaryotic initiation factor 4H, identified in rabbit, and is herein found to be constitutively expressed in both human and mouse, with two RNA and protein products formed (exon 5 is alternatively spliced). The transcription pattern of WBSCR5 was also examined and discussed along with its putative amino acid sequence. |
Mendeley readers
The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 4% |
| Unknown | 24 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 24% |
| Researcher | 3 | 12% |
| Professor > Associate Professor | 2 | 8% |
| Lecturer | 1 | 4% |
| Professor | 1 | 4% |
| Other | 3 | 12% |
| Unknown | 9 | 36% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 24% |
| Biochemistry, Genetics and Molecular Biology | 5 | 20% |
| Medicine and Dentistry | 3 | 12% |
| Immunology and Microbiology | 1 | 4% |
| Computer Science | 1 | 4% |
| Other | 0 | 0% |
| Unknown | 9 | 36% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 14 July 2018.
All research outputs
#7,454,066
of 22,788,370 outputs
Outputs from Mammalian Genome
#318
of 1,126 outputs
Outputs of similar age
#73,699
of 221,228 outputs
Outputs of similar age from Mammalian Genome
#27
of 92 outputs
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