![Identification, isolation and characterisation of the Drosophila orthologue of human SIX5 için kapak resmi Identification, isolation and characterisation of the Drosophila orthologue of human SIX5 için kapak resmi](/client/assets/d79c3e4af2b6d196/ctx/images/no_image.png)
Identification, isolation and characterisation of the Drosophila orthologue of human SIX5
Başlık:
Identification, isolation and characterisation of the Drosophila orthologue of human SIX5
Yazar:
Hamilton, Graham, author.
ISBN:
9780438060197
Yazar Ek Girişi:
Fiziksel Tanımlama:
1 electronic resource (184 pages)
Genel Not:
Source: Dissertation Abstracts International, Volume: 76-08C.
Advisors: Keith Johnson.
Özet:
Myotonic dystrophy type 1 (DM1) is characterised by a number of clinical phenotypes including muscle defects and testicular atrophy. The mutation causing the disease is a CTG triplet repeat expansion in the 3' untranslated region of a protein kinase gene, DMPK, and the promoter region of a homeobox gene, SIX5. The mechanism by which the mutation causes the disease phenotype still has to be elucidated, but the SIX5 transcript has been shown in several studies to be reduced in DM1 patients. SIX5 is a member of the Six family of genes, named after the first member found in Drosophila melanogaster, sine oculis. This thesis shows that D-Six4 is the closest Drosophila orthologue of SIX5, characterises the wild type expression pattern of D-Six4 and studies the effect of D-Six4 misexpression in the Drosophila eye. D-Six4 is involved in mesoderm, gonad head and central nervous system patterning in the developing embryo. Moreover, adult males with a defective D-Six4 gene exhibit testicular atrophy. The misexpression of D-Six4 indicates that it could induce the apoptotic pathway. The results from this thesis suggest that the Drosophila D-Six4 mutants could model certain aspects of DM1 and that human S1X5 should be more strongly considered as responsible for the muscle wasting and testicular atrophy phenotypes in DM1.
Notlar:
School code: 0547
Konu Başlığı:
Tüzel Kişi Ek Girişi:
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Yer Numarası | Demirbaş Numarası | Shelf Location | Lokasyon / Statüsü / İade Tarihi |
---|---|---|---|
XX(684796.1) | 684796-1001 | Proquest E-Tez Koleksiyonu | Arıyor... |
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