التفاصيل البيبلوغرافية
| العنوان: |
Microarray analysis of theDf1mouse model of the 22q11 deletion syndrome. |
| المؤلفون: |
Prescott, Katrina, Ivins, Sarah, Hubank, Mike, Lindsay, Elizabeth, Baldini, Antonio, Scambler, Peter |
| المصدر: |
Human Genetics; May2005, Vol. 116 Issue 6, p486-496, 11p |
| مصطلحات موضوعية: |
PHARYNGEAL diseases, GENETIC regulation, OLIGONUCLEOTIDES, ENDOCRINE glands, GENOTYPE-environment interaction |
| مستخلص: |
The 22q11 deletion syndrome (22q11DS; DiGeorge/velo-cardio-facial syndrome) primarily affects the structures comprising the pharyngeal arches and pouches resulting in arch artery, cardiac, parathyroid, thymus, palatal and craniofacial defects.Tbx1haploinsufficiency is thought to account for the main structural anomalies observed in the 22q11DS. TheDf1deleted mouse provides a model for 22q11DS, the deletion reflectingTbx1haploinsufficiency in the context of the deletion of 21 adjacent genes. We examined the expression of genes inDf1embryos at embryonic day (E) 10.5, a stage when the arch-artery phenotype is fully penetrant. Our aims were threefold, with our primary aim to identify differentially regulated genes. Second, we asked whether any of the genes hemizygous inDf1were dosage compensated to wild type levels, and third we investigated whether genes immediately adjacent to the deletion were dysregulated secondary to a position effect. Utilisation of oligonulceotide arrays allowed us to achieve our aims with 9 out of 12Df1deleted genes passing the stringent statistical filtering applied. Several genes involved in vasculogenesis and cardiogenesis were validated by real time quantitative PCR (RTQPCR), includingConnexin 45, a gene required for normal vascular development, andDnajb9a gene implicated in microvascular differentiation. There was no evidence of any dosage compensation of deleted genes, suggesting this phenomenon is rare, and no dysregulation of genes mapping immediately adjacent to the deletion was detected. HoweverCrkl, another gene implicated in the 22q11DS phenotype, was found to be downregulated by microarray and RTQPCR. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
