Role of CSNK2B encoding casein kinase II subunit beta in Filippi syndrome
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| Format: | Abschlussarbeit Buch |
| Sprache: | English |
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2017
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| 245 | 1 | 0 | |a Role of CSNK2B encoding casein kinase II subunit beta in Filippi syndrome |c vorgelegt von Emrah Kaygusuz aus Amasya, Türkei |
| 264 | 1 | |a Köln |c 2017 | |
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Datensatz im Suchindex
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|---|---|
| adam_text | TABLE OF CONTENTS
1.
INTRODUCTION......................................................................................................................
1
1.1. CRANIODIGITAL
SYNDROME..............................................................................................
1
1.2. FILIPPI
SYNDROME..........................................................................................................1
1.3. MOLECULAR GENETICS OF FILIPPI SYNDROME
..................................................................
3
1.4. CYTOSKELETON-ASSOCIATED PROTEIN 2-LIKE
(CKAP2L)..................................................4
1.5. PROTEIN KINASE
CK2....................................................................................................
5
1.5.1. PROTEIN KINASE CK2 ALPHA (CK2A).....
.................................................................
8
1.5.2. PROTEIN KINASE CK2 BETA
(CK2SS)........................................................................8
1.6. OBJECTIVES OF THE
THESIS...........................................................................................11
1.7.
PUBLICATION.................................................................................................................
12
2.
RESULTS.............................................................................................................................13
2.1. CLINICAL FEATURES OF FILIPPI SYNDROME FAMILY 2
..........................................................
13
2.2. LINKAGE
ANALYSIS........................................................................................................14
2.3. WHOLE-EXOME SEQUENCING OF FILIPPI PATIENT
...........................................................
15
2.4. TRIO WHOLE-EXOME
SEQUENCING..................................................................................16
2.5. SEGREGATION ANALYSIS OF C.94G C IN CSNK2B
........................................................
17
2.6. CONSEQUENCES OF THE MUTATION P.ASP32HIS
............................................................
18
2.7. ALIGNMENT OF CK2SS AND CK2A
SEQUENCES...............................................................19
2.8. EFFECT OF
CSNK2B MUTATION ON PROTEIN EXPRESSION AND LOCALIZATION IN MUTANT
LYMPHOBLASTOID C
ELLS......................................................................................................
20
2.9. QUANTITATIVE
PCR......................................................................................................
21
2.9.1. QRT-PCR ANALYSIS OF THE CSNK2B
TRANSCRIPT.................................................21
2.10. IDENTIFICATION OF NOVEL INTERACTION PARTNERS OF CK2SS
............................................
22
2.10.1. DIMERIZATION OF
CK2SS.....................................................................................
22
2.10.2. THE MUTATION IN CSNK2B AFFECTS THE INTERACTIONS WITH CK2SS AND
CK2A.... 23
2.11. CELL GROWTH AND
APOPTOSIS....................................................................................
27
2.12. LOCALIZATION OF CK2SS IN WILD TYPE AND FP2-1 PATIENT LYMPHOBLASTOID
CELLS
....
28
3.
DISCUSSION.....................................................................................................................
34
3.1. THE GENETIC EVIDENCE FOR THE NOVEL CSNK2B MUTATION CAUSING FILIPPI
SYNDROME
.......................................................
34
3.2. CONSEQUENCES OF THE C.94G C, P.ASP32HIS MUTATION IN CSNK2B ON
CELLULAR
AND PROTEIN
LEVEL...............................................................................................................34
3.3. CONSEQUENCES OF THE CSNK2B MUTATION ON THE STRUCTURE AND
INTERACTION OF THE
CK2
HOLOENZYME.............................................................................................
38
4. MATERIAL AND
METHODS.................................................................................................
42
4.1.
MATERIALS....................................................................................................................42
4.1.1. HUMAN
CELLS........................................................................................................
42
4.1.2. BACTERIAL
STRAINS..................................................................................................42
4.1.3. VECTORS AND
PLASMIDS........................................................................................
42
4.1.4.
ENZYMES.............................................................................................................
42
4.1.5. K
ITS......................................................................................................................42
4.1.6.
ANTIBIOTICS...........................................................................................................
42
4.1.7.
CHEMICALS...........................................................................................................
42
4.2.
SUBJECTS....................................................................................................................44
4.3. ISOLATION OF DMA FROM WHOLE
BLOOD..........................................................................44
4.4. DETERMINATION OF DMA
CONCENTRATION.......................................................................45
4.5. GENOME-WIDE LINKAGE
ANALYSIS...............................................................................45
4.6. WHOLE-EXOME
SEQUENCING......................................................................................
46
4.7. DMA
SEQUENCING......................................................................................................
46
4.7.1. SANGER SEQUENCING FOR SEGREGATION ANALYSIS
..................................................
46
4.7.2. AMPLIFICATION OF DMA FRAGMENTS BY POLYMERASE CHAIN REACTION (PCR)
.........
47
4.7.3. AGAROSE GEL
ELECTROPHORESIS..............................................................................48
4.7.4. EXO-SAP PCR CLEAN
UP.....................................................................................
49
4.7.5. BIGDYE TERMINATOR CYCLE SEQUENCING
..............................................................
50
4.8. REAL-TIME QUANTITATIVE REVERSE TRANSCRIPTION PCR
(QRT-PCR)..............................50
4.8.1. RNA
EXTRACTION...................................................................................................
50
4.8.2. CDNA SYNTHESIS FROM TOTAL
RNA.........................................................................50
4.9. QUANTITATIVE REAL-TIME PCR (QRT-PCR)
ANALYSIS....................................................51
4.10. SITE-DIRECTED MUTAGENESIS
.....................................................................................
52
4.11. CELL LINES AND CELL CULTURE
.......................................................................................
53
4.11.1. CELL LINE
ESTABLISHMENT...................................................................................
53
4.11.2. CELL CULTURE
CONDITIONS...................................................................................
54
4.12. CELL
PROLIFERATION.....................................................................................................
54
4.13. ANALYSIS OF
APOPTOSIS..............................................................................................54
4.14. TRANSFECTION OF COS-7
CELLS...................................................................................
54
4 .1 5
.1MMUNOCYTOCHEMISTRY............................................................................................54
4.16. PREPARATION OF PROTEIN LYSATES FROM EUKARYOTIC CELLS
...........................................
56
4.17. SDS-PAGE AND WESTERN
BLOTTING..........................................................................57
4.18. GST FUSION PROTEIN EXPRESSION AND
PURIFICATION....................................................58
5.
SUMMARY........................................................................................................................
61
6.
ZUSAMMENFASSUNG.......................................................................................................
62
7.
REFERENCES.....................................................................................................................
63
8.
ABBREVIATIONS.................................................................................................................72
9.
ERKLAERUNG........................................................................................................................
74
10.
LEBENSLAUF..................................................................................................................
75
|
| any_adam_object | 1 |
| author | Kaygusuz, Emrah 1984- |
| author_GND | (DE-588)1155557115 |
| author_facet | Kaygusuz, Emrah 1984- |
| author_role | aut |
| author_sort | Kaygusuz, Emrah 1984- |
| author_variant | e k ek |
| building | Verbundindex |
| bvnumber | BV045275676 |
| ctrlnum | (OCoLC)1048385320 (DE-599)DNB1159648409 |
| discipline | Biologie |
| format | Thesis Book |
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| spelling | Kaygusuz, Emrah 1984- Verfasser (DE-588)1155557115 aut Role of CSNK2B encoding casein kinase II subunit beta in Filippi syndrome vorgelegt von Emrah Kaygusuz aus Amasya, Türkei Köln 2017 75 Blätter Illustrationen 30 cm txt rdacontent n rdamedia nc rdacarrier Dissertation Universität zu Köln 2017 (DE-588)4113937-9 Hochschulschrift gnd-content B:DE-101 application/pdf http://d-nb.info/1159648409/04 Inhaltsverzeichnis DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=030663360&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Kaygusuz, Emrah 1984- Role of CSNK2B encoding casein kinase II subunit beta in Filippi syndrome |
| subject_GND | (DE-588)4113937-9 |
| title | Role of CSNK2B encoding casein kinase II subunit beta in Filippi syndrome |
| title_auth | Role of CSNK2B encoding casein kinase II subunit beta in Filippi syndrome |
| title_exact_search | Role of CSNK2B encoding casein kinase II subunit beta in Filippi syndrome |
| title_full | Role of CSNK2B encoding casein kinase II subunit beta in Filippi syndrome vorgelegt von Emrah Kaygusuz aus Amasya, Türkei |
| title_fullStr | Role of CSNK2B encoding casein kinase II subunit beta in Filippi syndrome vorgelegt von Emrah Kaygusuz aus Amasya, Türkei |
| title_full_unstemmed | Role of CSNK2B encoding casein kinase II subunit beta in Filippi syndrome vorgelegt von Emrah Kaygusuz aus Amasya, Türkei |
| title_short | Role of CSNK2B encoding casein kinase II subunit beta in Filippi syndrome |
| title_sort | role of csnk2b encoding casein kinase ii subunit beta in filippi syndrome |
| topic_facet | Hochschulschrift |
| url | http://d-nb.info/1159648409/04 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=030663360&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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