The role of chromatin remodelling factors in cerebellar development and autism
Başlık çevirisi mevcut değil.
- Tez No: 402865
- Danışmanlar: DR. CATHY FERNANDES, DR. ALBERT BASSON
- Tez Türü: Yüksek Lisans
- Konular: Genetik, Genetics
- Anahtar Kelimeler: Belirtilmemiş.
- Yıl: 2015
- Dil: İngilizce
- Üniversite: University of London
- Enstitü: Yurtdışı Enstitü
- Ana Bilim Dalı: Belirtilmemiş.
- Bilim Dalı: Belirtilmemiş.
- Sayfa Sayısı: 61
Özet
Özet yok.
Özet (Çeviri)
Autism is a complex neurodevelopmental disorder with recognizable symptoms in early childhood, identified by three fundamental behavioural symptoms: persistent impairment social interaction, communication and restricted interest and repetitive behaviours. One percent of the population around the world is influenced by autism. Autism is associated with various rare genetic and medical conditions. CHARGE syndrome is one of the disorders under this umbrella term. Children with CHARGE syndrome and those with autism have overlapping behavioural traits, neuroanatomical defects, and genetic factors. One of the most implicated genes associated with CHARGE syndrome is CHD7 encoding the ATP-dependent chromatin remodeler. CHD7 gene is involved in development of cerebellum, which is consistently reported to be associated with neuroanatomical defects in individuals with autism. The mechanisms underlying deficits in the syndrome associated with the autistic features remain unidentified. Given the genomic, brain anatomy, pharmacological treatment response similarities between mice and human, animal models of psychiatric disorders emerged as tools to elucidate the exact role of genes and their effects over time by creating mutant phenotypes resembling human disease phenotypes. An investigation of the behavioural effects of the conditional Chd7 deletion in mice was performed to gain a better understanding of its role in ASD. Wildtype, knockout Chd7 male and female mice were tested for impairments in short-term memory (novel object discrimination task), spatial learning, reference memory and/or cognitive flexibility (Morris water maze task) (n = 12 per genotype, per sex). Alternative cognitive task for the assessment of short-term memory (spontaneous spatial novelty discrimination in a Y maze) was piloted in C57BL/6J mice to assess its utility for future behavioural work (n = 12, male). Cerebellar hypoplasia in Chd7 conditional knockout mice is associated with mild motor deficits. This study has several limitations that affect robustness in assessments of cognitive abilities in mice regarding few numbers of cognitive tests and evaluation of the mutant line. Although this work reports no strong behavioural deficiencies associated with cerebellar hypoplasia, these observations are still be of significant interest in elucidating isolated cerebellar hypoplasia because it is one of the main factors influencing autistic phenotypes associated with Chd7 deficiency.
Benzer Tezler
- Investigation of the interaction between NFI and its potential interaction partner BRG1
NFI proteininin potansiyel etkileşim partneri olan BRG1 ile etkileşiminin araştırılması
SELİM TÜRKEL
Yüksek Lisans
İngilizce
2018
Biyolojiİstanbul Teknik ÜniversitesiMoleküler Biyoloji-Genetik ve Biyoteknoloji Ana Bilim Dalı
YRD. DOÇ. DR. ASLI KUMBASAR
- Akut myeloid lösemi hastalarında BAP1 ve ANAPC7 gen ekspresyonlarının araştırılması
Investigation of BAP1 and ANAPC7 genes expressions in patient with acute myeloid leukemia
MUHARREM EREN KORKMAZER
Yüksek Lisans
Türkçe
2014
GenetikErciyes ÜniversitesiTıbbi Genetik Ana Bilim Dalı
PROF. DR. MUNİS DÜNDAR
- Tet-on sistemi ile metil-CPG-bağlanma bölgesi 3 (MBD3) ekspresyonu susturulmuş fibroblast hücrelerinin embriyonik kök hücre kaynaklı eksozomlar aracılığı ile pluripotent hücrelere programlanması
Reprogramming of methyl-cpg binding domain (MBD3)/tet-on silenced fibroblast cells BY embryonic stem cell derived exosomes into pluripotent cells
CEREN ÖZEL
- Investigations into the function and regulation of the C-terminal binding protein (CTBP-1) in C. elegans
C. elegans'ta C-terminal Binding Protein'in (CTBP-1) fonksiyonunun ve düzenlenmesinin araştırılması
DUYGU YÜCEL
Doktora
İngilizce
2012
Tıbbi BiyolojiUniversity of SydneyTıbbi Biyoloji Ana Bilim Dalı
DR. ÖĞR. ÜYESİ HANNAH NICHOLAS
- Endometriumda peri-implantasyon döneminde histon modifikasyon enzimlerinin ve kromatin yeniden modelleme faktörlerinin MRNA profillerinin araştırılması: Koyun modeli
Investigation of MRNa profiles of histone modification enzymes and chromatin remodeling factors in endometrium during peri-implantation stage: sheep model
ÇAĞLAYAN ÖZEL