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| pubmed-article:8095339 | lifeskim:mentions | umls-concept:C1705248 | lld:lifeskim |
| pubmed-article:8095339 | lifeskim:mentions | umls-concept:C1699173 | lld:lifeskim |
| pubmed-article:8095339 | lifeskim:mentions | umls-concept:C1283195 | lld:lifeskim |
| pubmed-article:8095339 | lifeskim:mentions | umls-concept:C1548799 | lld:lifeskim |
| pubmed-article:8095339 | lifeskim:mentions | umls-concept:C1334043 | lld:lifeskim |
| pubmed-article:8095339 | lifeskim:mentions | umls-concept:C1524073 | lld:lifeskim |
| pubmed-article:8095339 | lifeskim:mentions | umls-concept:C2697616 | lld:lifeskim |
| pubmed-article:8095339 | lifeskim:mentions | umls-concept:C0449432 | lld:lifeskim |
| pubmed-article:8095339 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:8095339 | pubmed:dateCreated | 1993-4-8 | lld:pubmed |
| pubmed-article:8095339 | pubmed:abstractText | Prader-Willi and Angelman syndromes are complex neurobehavioral contiguous gene syndromes whose expression depends on the unmasking of genomic imprinting for different genetic loci in human chromosome 15q11-q13. The homologous chromosomal region in the mouse genome has been fine-mapped by using interspecific (Mus spretus) crosses and overlapping, radiation-induced deletions to evaluate potential animal models for both imprinted and nonimprinted components of these syndromes. Four evolutionarily conserved sequences from human 15q11-q13, including two cDNAs from fetal brain (DN10, D15S12h; DN34, D15S9h-1), a microdissected clone (MN7; D15F37S1h) expressed in mouse brain, and the gene for the beta 3 subunit of the gamma-aminobutyric acid type A receptor (Gabrb3), were mapped in mouse chromosome 7 by analysis of deletions at the pink-eyed dilution (p) locus. Three of these loci are deleted in pre- and postnatally lethal p-locus mutations, which extend up to 5.5 +/- 1.7 centimorgans (cM) proximal to p; D15S9h-1, which maps 1.1 +/- 0.8 cM distal to p and is the mouse homolog of the human gene D15S9 (which shows a DNA methylation imprint), is not deleted in any of the p-locus deletion series. A transcript from the Gabrb3 gene, but not the transcript detected by MN7 at the D15F37S1h locus, is expressed in mice homozygous for the p6H deletion, which have an abnormal neurological phenotype. Furthermore, the Gabrb3 transcript is expressed equally well from the maternal or paternal chromosome 7 and, therefore, its expression is not imprinted in mouse brain. Deletions at the mouse p locus should serve as intermediate genetic reagents and models with which to analyze the genetics and etiology of individual components of human 15q11-q13 disorders. | lld:pubmed |
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| pubmed-article:8095339 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:8095339 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:8095339 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8095339 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:8095339 | pubmed:issn | 0027-8424 | lld:pubmed |
| pubmed-article:8095339 | pubmed:author | pubmed-author:RussellL BLB | lld:pubmed |
| pubmed-article:8095339 | pubmed:author | pubmed-author:GottliebWW | lld:pubmed |
| pubmed-article:8095339 | pubmed:author | pubmed-author:HorsthemkeBB | lld:pubmed |
| pubmed-article:8095339 | pubmed:author | pubmed-author:RinchikE MEM | lld:pubmed |
| pubmed-article:8095339 | pubmed:author | pubmed-author:NichollsR DRD | lld:pubmed |
| pubmed-article:8095339 | pubmed:author | pubmed-author:DavdaMM | lld:pubmed |
| pubmed-article:8095339 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8095339 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:8095339 | pubmed:volume | 90 | lld:pubmed |
| pubmed-article:8095339 | pubmed:geneSymbol | D15S9 | lld:pubmed |
| pubmed-article:8095339 | pubmed:geneSymbol | Myod-1 | lld:pubmed |
| pubmed-article:8095339 | pubmed:geneSymbol | D15F37S | lld:pubmed |
| pubmed-article:8095339 | pubmed:geneSymbol | Igflr | lld:pubmed |
| pubmed-article:8095339 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8095339 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8095339 | pubmed:pagination | 2050-4 | lld:pubmed |
| pubmed-article:8095339 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:8095339 | pubmed:year | 1993 | lld:pubmed |
| pubmed-article:8095339 | pubmed:articleTitle | Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse. | lld:pubmed |
| pubmed-article:8095339 | pubmed:affiliation | Department of Neuroscience, University of Florida Brain Institute, Gainesville. | lld:pubmed |
| pubmed-article:8095339 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8095339 | pubmed:publicationType | Comparative Study | lld:pubmed |
| pubmed-article:8095339 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
| pubmed-article:8095339 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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