Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 6 of 6 for “"maternal allele"”.
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Large offspring syndrome, a bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann
… with loss of methylation at the KvDMR1 on the maternal allele and with down-regulation of the maternally-expressed gene CDKN1C. In conclusion, our results show phenotypic and epigenetic similarities between LOS and BWS, and we propose the use of LOS as an animal model to investigate the …
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The Role of the X-chromosomal Porcupine Homolog Gene in Mouse Development
… mouse line carrying a conditional (floxed) Porcn allele that I have generated, I have focused my studies on the early embryonic roles of Porcn using Cre recombinase-mediated and X chromosome inactivation-based ablation of Porcn function in vivo. I have found that the earliest requirement for Porcn …
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Transcript Regulation within the Kcnq1 Domain
… Imprints are marks that distinguish the maternal from the paternal chromosomes in the form of methylation. Methylation marks can influence transcript expression, resulting in only one allele being expressed. One imprinted domain is the Kcnq1 domain located on chromosome 11p15.5 in humans …
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Investigation of Cell-Type-Specific Effects and Synergistic Interactions Between Genes in Duplication 15q Syndrome
… imprinting and is expressed only from the maternal allele in mature neurons. Prior to this work the imprinting status of Dube3a in flies was unclear. Here, we present evidence that Dube3a is not imprinted and is biallelically expressed in the fly. Next, in Chapter 3 we examined the …
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The epigenetics and role of Dopa Decarboxylase in heart development
… subjects a handful of genes to silencing on one allele depending on the parent-of-origin of that allele. The Ddc_exonla gene transcript is under the control of genomic imprinting in the developing and neonatal mouse heart with transcription occurring solely on the paternally inherited allele, …
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Genomic changes in Fanconi anemia: implications for diagnosis, pathogenesis and prognosis
… whereas the other three patients carried five alleles with the Dutch founder mu- tation 65delG and one allele with the Ashkenazi founder mutation IVS4+4A>T, albeit without any known Ashkenazi ancestry. We also describe the first large deletion in FANCC. The newly detected alterations include …