التفاصيل البيبلوغرافية
| العنوان: |
Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse. |
| المؤلفون: |
Kimber WL; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Hsieh P, Hirotsune S, Yuva-Paylor L, Sutherland HF, Chen A, Ruiz-Lozano P, Hoogstraten-Miller SL, Chien KR, Paylor R, Scambler PJ, Wynshaw-Boris A |
| المصدر: |
Human molecular genetics [Hum Mol Genet] 1999 Nov; Vol. 8 (12), pp. 2229-37. |
| نوع المنشور: |
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| اللغة: |
English |
| بيانات الدورية: |
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| أسماء مطبوعة: |
Original Publication: Oxford, England ; New York : IRL Press at Oxford University Press, c1992- |
| مواضيع طبية MeSH: |
Chromosome Deletion* , Chromosomes, Human, Pair 22*, DiGeorge Syndrome/*genetics, Animals ; Base Sequence ; DNA Primers ; Heterozygote ; Humans ; Male ; Mice |
| مستخلص: |
Deletions or rearrangements of human chromosome 22q11 lead to a variety of related clinical syndromes such as DiGeorge syndrome (DGS) and velo--cardiofacial syndrome (VCFS). In addition, patients with 22q11 deletions have an increased incidence of schizophrenia and several studies have mapped susceptibility loci for schizophrenia to this region. Human molecular genetic studies have so far failed to identify the crucial genes or disruption mechanisms that result in these disorders. We have used gene targeting in the mouse to delete a defined region within the conserved DGS critical region (DGCR) on mouse chromosome 16 to prospectively investigate the role of the mouse DGCR in 22q11 syndromes. The deletion spans a conserved portion ( approximately 150 kb) of the proximal region of the DGCR, containing at least seven genes ( Znf74l, Idd, Tsk1, Tsk2, Es2, Gscl and Ctp ). Mice heterozygous for this deletion display no findings of DGS/VCFS in either inbred or mixed backgrounds. However, heterozygous mice display an increase in prepulse inhibition of the startle response, a manifestation of sensorimotor gating that is reduced in humans with schizophrenia. Homozygous deleted mice die soon after implantation, demonstrating that the deleted region contains genes essential for early post-implantation embryonic development. These results suggest that heterozygous deletion of this portion of the DGCR is sufficient for sensorimotor gating abnormalities, but not sufficient to produce the common features of DGS/VCFS in the mouse. |
| معلومات مُعتمدة: |
P30HD24064-11 United States HD NICHD NIH HHS; United Kingdom Wellcome Trust |
| المشرفين على المادة: |
0 (DNA Primers) |
| تواريخ الأحداث: |
Date Created: 19991105 Date Completed: 19991214 Latest Revision: 20190513 |
| رمز التحديث: |
20221213 |
| DOI: |
10.1093/hmg/8.12.2229 |
| PMID: |
10545603 |
| قاعدة البيانات: |
MEDLINE |
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