| Title |
The human lanosterol synthase gene maps to chromosome 21q22.3
|
|---|---|
| Published in |
Human Genetics, May 1996
|
| DOI | 10.1007/bf02281872 |
| Pubmed ID | |
| Authors |
Michele Young, Haiming Chen, Maria D. Lalioti, Stylianos E. Antonarakis |
| Abstract |
In order to contribute to the development of the transcriptional map of human chromosome 21 (HC21) we have used exon trapping to identify portions of HC21 genes. Using pools of random HC21-specific cosmids from the LL21NC02-Q library and cosmids from 21q22.3 we have identified five different coding regions with strong homology to the lanosterol synthase genes of rat and yeast. This enzyme catalyzes the cyclization of squalene-2,3-epoxide lanosterol, which is the parental compound of all steroids in mammals. Using somatic cell hybrids and HC21 yeast artificial chromosomes (YACS) and cosmids, we mapped the human lanosterol synthase cDNA gene to 2lq22.3 between markers D21S25 and 21qter. Cosmid Q7G8 from the LL21NC02-Q library and YAC 145D8 from the CEPH HC21 contig contain this human gene. We cloned a portion of the human lanosterol synthase cDNA (almost 85% of the coding region) from a brain cDNA library and determined its nucleotide sequence. The predicted human protein shows 83% identity to its rat and 40% to its yeast homolog. No obvious candidate human disease exists for lanosterol synthase deficiency and the role (if any) of triplication of this gene in the various phenotypes of trisomy 21 is unknown. |
Mendeley readers
The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 9 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 33% |
| Lecturer | 1 | 11% |
| Student > Postgraduate | 1 | 11% |
| Unknown | 4 | 44% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 3 | 33% |
| Biochemistry, Genetics and Molecular Biology | 1 | 11% |
| Sports and Recreations | 1 | 11% |
| Unknown | 4 | 44% |
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 06 March 2020.
All research outputs
#7,453,827
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Outputs from Human Genetics
#933
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Outputs of similar age
#8,369
of 27,671 outputs
Outputs of similar age from Human Genetics
#9
of 29 outputs
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