Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation:
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Mikrofilm Buch |
| Sprache: | English |
| Veröffentlicht: |
2005
|
| Ausgabe: | [Mikrofiche-Ausg.] |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Berlin, Humboldt-Univ., Diss., 2005. - Mikrofiche-Ausg.: 2 Mikrofiches : 24x |
| Beschreibung: | 120 Bl. Ill., graph. Darst. |
Internformat
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| 100 | 1 | |a Tao, Jiong |d 1970- |e Verfasser |0 (DE-588)12983288X |4 aut | |
| 245 | 1 | 0 | |a Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation |c von Jiong Tao |
| 250 | |a [Mikrofiche-Ausg.] | ||
| 264 | 1 | |c 2005 | |
| 300 | |a 120 Bl. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b h |2 rdamedia | ||
| 338 | |b he |2 rdacarrier | ||
| 500 | |a Berlin, Humboldt-Univ., Diss., 2005. - Mikrofiche-Ausg.: 2 Mikrofiches : 24x | ||
| 533 | |a Mikroform-Ausgabe |d 2005 |e 2 Mikrofiche : 24x |7 s2005 |n [Mikrofiche-Ausg.] | ||
| 655 | 7 | |0 (DE-588)4113937-9 |a Hochschulschrift |2 gnd-content | |
| 776 | 0 | 8 | |i Reproduktion von |a Tao, Jiong, 1970- |t Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation |d 2005 |
| 856 | 4 | 2 | |m DNB Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=013327850&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 943 | 1 | |a oai:aleph.bib-bvb.de:BVB01-013327850 | |
Datensatz im Suchindex
| _version_ | 1808044624106749952 |
|---|---|
| adam_text |
CONTENTS
ABBREVIATIONS
.
6
1
INTRODUCTION
.
10
1.1.
RESEARCH
BACKGROUND
.
10
1.1.1
MENTAL
RETARDATION
(MR)
:
DEFINITION,
PREVALENCE
AND
CAUSES
.
10
1.1.2
X-LINKED
MENTAL
RETARDATION
(XLMR):
A
HISTORICAL
OVERVIEW
.
10
1.1.3
STUDIES
IN
XLMR
.
11
1.1.3.1
CLINICAL
DELINEATION
AND
CLASSIFICATION
OF
XLMR
.
11
1.1.3.2
LINKAGE
ANALYSIS
IN
FAMILIES
WITH
XLMR
.
12
1.1.3.3
MOLECULAR
IDENTIFICATION
OF
XLMR
GENES
.
12
1.1.4
IMPACTS
OF
XLMR
STUDIES
.
16
1.1.4.1
CONTRIBUTIONS
IN
THE
NOSOLOGY
OF
XLMR
.
16
1.1.4.2
UNDERSTANDING
THE
MOLECULAR
AND
CELLULAR
BASIS
OF
MR
.
18
1.1.5
PERSPECTIVES
.
22
1.2
OUTLINE
OF
THE
PROJECT
.
23
2
MATERIALS,
SUBJECTS
AND
METHODS
.
24
2.1
MATERIALS
.
24
2.1.1
CHEMICALS
AND
REAGENTS
.
24
2.1.2
SOLUTIONS
AND
MEDIA
.
26
2.1.3
ENZYMES
.
30
2.1.4
KITS
.
31
2.1.5
VECTORS
.
31
2.1.6
ANTIBODIES
.
32
2.1.7
PRIMERS
.
32
2.1.8
HUMAN
GENOMIC
CLONES
.
32
2.1.9
BACTERIAL
MATERIALS
.
32
2.1.10
MAMMALIAN
CELL
LINE
.
32
2.2
SUBJECTS
.
33
2.3
METHODS
.
33
2.3.1
DNA
ISOLATION
.
33
2.3.2
RNA
ISOLATION
.
34
2.3.3
FLUORESCENCE
IN
SITU
HYBRIDIZATION
.
34
2.3.4
PREPARATION
OF
DNA
PROBES
FOR
SOUTHERN
BLOT
HYBRIDIZATION
.
34
2.3.5
ISOTOPE-LABELING
OF
PROBES
FOR
SOUTHERN
BLOT
HYBRIDIZATION
.
35
2.3.6
SOUTHERN
BLOT
HYBRIDIZATION
.
35
2.3.7
GENOMIC
WALKING
.
36
2.3.8
RT-PCR
.
37
2.3.9
DENATURING
HIGH
PERFORMANCE
LIQUID
CHROMATOGRAPHY
(DHPL)
ANALYSIS
.
38
2.3.10
CONSTRUCTION
OF
BACTERIAL,
YEAST
AND
MAMMALIAN
EXPRESSION
VECTORS
.
40
2.3.11
CONSTRUCTION
OF
STK9
KINASE-DEFICIENT
MUTANT
.
41
2.3.12
EXPRESSION
OF
6
X
HIS
TAGGED
STK9
PEPTIDES
IN
E.
COLI
.
42
CONTENTS
2.3.13
PURIFICATION
OF
6
X
HIS
TAGGED
FUSION
PROTEINS
.
42
2.3.14
IMMUNIZATION
.
42
2.3.15
YEAST
TWO-HYBRID
LIBRARY
SCREENING
.
43
2.3.16
ANALYSIS
OF
PREY
INSERTS
IN
YEAST
POSITIVE
CLONES
.
43
2.3.17
PREPARATION
OF
YEAST
PROTEIN
EXTRACTS
.
44
2.3.18
CELL
CULTURE
AND
DNA
TRANSFECTION
.
44
2.3.19
IMMUNOFLUORESCENCE
.
44
2.3.20
SDS
PAGE
AND
WESTERN
BLOT
ANALYSIS
.
45
3
RESULTS
.
47
3.1
DISRUPTION
OF
SERINE/THREONINE
KINASE
9
GENE
(STK9)
IN
A
FEMALE
PATIENT
WITH
SEVERE
INFANTILE
SPASMS,
GLOBAL
DEVELOPMENTAL
ARREST
AND
PROFOUND
MENTAL
RETARDATION
(PATIENT
1)
.
47
3.1.1
CLINICAL
INVESTIGATION
OF
PATIENT
1.
48
3.1.2
CYTOGENETIC
INVESTIGATION
OF
THE
TRANSLOCATION
BREAKPOINTS
.
49
3.1.3
MOLECULAR
INVESTIGATION
OF
THE
TRANSLOCATION
BREAKPOINTS
.
50
3.1.4
TRUNCATION
OF
STK9
IN
PATIENT
1.
52
3.2
DE
NOVO
MUTATIONS
IN
STK9
ARE
ASSOCIATED
WITH
A
SEVERE
FORM
OF
ATYPICAL
RETT
SYNDROME
.
57
3.2.1
MUTATION
SCREENING
IN
THE
CODING
REGION
OF
STK9
.
58
3.2.2
PATIENT
2
WITH
P.C152F
MISSENSE
MUTATION
.
59
3.2.3
PATIENTS
3
AND
4
WITH
P.R175S
MISSENSE
MUTATION
.
60
3.2.4
SEQUENCE
ANALYSIS
OF
P.C152F
AND
P.R175S
MISSENSE
MUTATIONS
.
62
3.3
GENERATION
OF
A
POLYCLONAL
ANTIBODY
AGAINST
STK9
PROTEIN
.
65
3.3.1
EXPRESSION
OF
6
X
HIS
TAGGED
STK9
PEPTIDES
IN
E.
COLL
.
65
3.3.2
PURIFICATION
AND
CONCENTRATION
OF
6
X
HIS
TAGGED
STK9
PEPTIDES
.
66
3.3.3
EVALUATION
OF
IMMUNOREACTIVITY
OF
THE
ANTI
STK9
ANTISERUM
.
69
3.4
SCREENING
FOR
STK9
INTERACTION
PARTNERS
.
73
3.4.1
CONSTRUCTION
OF
A
KINASE-DEFICIENT
MUTANT
STK9-K42R
.
74
3.4.2
YEAST
TWO-HYBRID
LIBRARY
SCREENING
.
77
4
DISCUSSION
.
79
4.1
POSITIONAL
CLONING
IDENTIFIED
STK9
AS
A
CANDIDATE
GENE
FOR
XLMR
.
79
4.2
MUTATION
ANALYSIS
CONFIRMED
THE
CAUSATIVE
ROLE
OF
STK9
IN
MR
.
80
4.3
STK9
ALTERATIONS
ARE
LIKELY
TO
AFFECT
ITS
KINASE
ACTIVITIES
.
81
4.4
STK9
ALTERATIONS
ARE
ASSOCIATED
WITH
A
WIDE
RANGE
OF
CLINICAL
FEATURES
.
82
4.5
THE
PHENOTYPIC
SPECTRUM
ASSOCIATED
WITH
STK9
ALTERATIONS
OVERLAPS
WITH
THAT
OF
MECP2
MUTATION
.
85
4.6
PRIMARY
SEQUENCE
ANALYSIS
SUGGESTS
THAT
STK9
FUNCTION
IN
A
SIMILAR
WAY
AS
ERKS
IN
ACTIVITY-DEPENDENT
SYNAPTIC
PLASTICITY
.
86
4.7
FUNCTION
OF
THE
PUTATIVE
INTERACTION
PARTNERS
OF
STK9
MUTANT
SUGGESTS
A
ROLE
OF
STK9
SIGNALING
IN
SYNAPTIC
PLASTICITY
.
90
4.8
LOCALIZATION
OF
STK9
IN
THE
CENTROSOME
SUGGESTS
ITS
POTENTIAL
ASSOCIATION
WITH
THE
MICROTUBULE
NETWORK
.
93
4.9
ABNORMAL
SYNAPTIC
PLASTICITY
MAY
BE
A
COMMON
CELLULAR
CAUSE
FOR
SOME
MR
.
94
4.10
THE
FUTURE
.
96
4
CONTENTS
5
SUMMARY
.
97
6
ELECTRONIC
DATABASE
INFORMATION
.
100
7
REFERENCES
.
101
8
ACKNOWLEDGEMENT
.
115
9
CURRICULUM
VITAE
.
116
10
PUBLICATIONS
.
119
11
DECLARATION
120
5 |
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| author | Tao, Jiong 1970- |
| author_GND | (DE-588)12983288X |
| author_facet | Tao, Jiong 1970- |
| author_role | aut |
| author_sort | Tao, Jiong 1970- |
| author_variant | j t jt |
| building | Verbundindex |
| bvnumber | BV020006196 |
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| id | DE-604.BV020006196 |
| illustrated | Illustrated |
| indexdate | 2024-08-22T00:15:20Z |
| institution | BVB |
| language | English |
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| owner_facet | DE-355 DE-BY-UBR DE-19 DE-BY-UBM |
| physical | 120 Bl. Ill., graph. Darst. |
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| publishDateSearch | 2005 |
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| spelling | Tao, Jiong 1970- Verfasser (DE-588)12983288X aut Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation von Jiong Tao [Mikrofiche-Ausg.] 2005 120 Bl. Ill., graph. Darst. txt rdacontent h rdamedia he rdacarrier Berlin, Humboldt-Univ., Diss., 2005. - Mikrofiche-Ausg.: 2 Mikrofiches : 24x Mikroform-Ausgabe 2005 2 Mikrofiche : 24x s2005 [Mikrofiche-Ausg.] (DE-588)4113937-9 Hochschulschrift gnd-content Reproduktion von Tao, Jiong, 1970- Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation 2005 DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=013327850&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Tao, Jiong 1970- Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation |
| subject_GND | (DE-588)4113937-9 |
| title | Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation |
| title_auth | Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation |
| title_exact_search | Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation |
| title_full | Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation von Jiong Tao |
| title_fullStr | Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation von Jiong Tao |
| title_full_unstemmed | Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation von Jiong Tao |
| title_short | Identification and characterization of serine, threonine kinase 9 as a causative gene for X-linked mental retardation |
| title_sort | identification and characterization of serine threonine kinase 9 as a causative gene for x linked mental retardation |
| topic_facet | Hochschulschrift |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=013327850&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT taojiong identificationandcharacterizationofserinethreoninekinase9asacausativegeneforxlinkedmentalretardation |