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@PHDTHESIS{Skawinska:452457,
author = {Skawinska, Natalia},
title = {{A}llosteric regulation of human tryptophan hydroxylase
isoform 2 (h{TPH}2)},
school = {Technical University of Denmark},
type = {Dissertation},
reportid = {PUBDB-2020-04692},
pages = {1-279},
year = {2020},
note = {Dissertation, Technical University of Denmark, 2020},
abstract = {Tryptophan hydroxylase catalyzes the rate-limiting reaction
in the biosynthesis pathway of serotonin, one of the most
ubiquitous and multifunctional neurotransmitters. The
influence of the serotonergic system extends over many
functions of the human body, ranging from temperature and
muscle tone control, to mood and sleep regulation.
Consequently, many diseases are associated with incorrect
serotonin levels, most notably major depression.Out of the
two isoforms of tryptophan hydroxylase expressed in the
human body, this thesis focuses on isoform 2 (hTPH2),
prevalent in the raphe nuclei of the brain. The purpose of
the project was the structural characterization of the
protein, with emphasis on its poorly understood and
inherently unstable regulatory domain. While the catalytic
and tetramerization domains of hTPH2 have been crystallized,
the majority of structural information about the regulatory
domain is inferred from the structure phenylalanine
hydroxylase, a close homolog of hTPH.The common thread of
this project was the study of allosteric ligand binding in
the regulatory domain of hTPH2 and its structural effects.
L-Phe and L-Trp have previously been reported to stabilize
and induce the dimerization of hTPH2 variants containing the
regulatory domain. Numerous biophysical techniques were
employed, most prominent of which were small-angle X-ray
scattering combined with size exclusion chromatography
(SEC-SAXS) and hydrogen-deuterium exchange coupled to mass
spectrometry (HDX-MS).A solution structure of an
N-terminally truncated hTPH2 tetramer in the presence of
0.6–9.0 mM L-Phe was successfully modeled. The resulting
structures are the first experimental tetrameric structures
of hTPH2, and the first to contain the regulatory domain of
the protein. The tetramer was revealed to be X-shaped and
inflexible, and the regulatory domains were found to be in
proximity to each other. The obtained structures shed new
light on the L-Phe bound conformation of hTPH2 and the
relative positions of all domains in the tetramer.A dimeric
hTPH2 variant lacking the tetramerization domain was also
modeled in the presence of L-Phe, and was found to be
flexible, unlike the tetramer. Modeling of this variant in
the presence of L-Trp was not feasible, but it was
nonetheless confirmed to exist in the same dimeric state in
the presence of L-Trp as in the presence of L-Phe. Both
amino acid ligands were then demonstrated to bind to the
same, specific site in the regulatory domain. These results
provide ample, multifaceted evidence for the binding of both
L-Phe and L-Trp at the interface of two regulatory domains,
which stabilizes their dimer.iiThe effects of ligand binding
on the structural dynamics of the hTPH2 regulatory and
catalytic domains were explored in a study employing
hydrogen-deuterium exchange coupled to mass spectrometry.
L-Phe binding in the active site was found to structurally
destabilize the C-terminal section of the catalytic domain,
as well as a short loop containing Thr413, a residue
involved in substrate selectivity of the protein. Structural
effects in the regulatory domain are also reported. Based on
strong L-Phe-induced stabilization, we were able to propose
the α1 and β1 elements of the regulatory domain as the
location of the monomer-monomer interface. This region
coincides with the stipulated allosteric ligand binding
site. Further, the interface between the catalytic and
regulatory domains was proposed to encompass β4 element and
the linker loop between the two domains.},
cin = {EMBL-User},
cid = {I:(DE-H253)EMBL-User-20120814},
pnm = {6G3 - PETRA III (POF3-622)},
pid = {G:(DE-HGF)POF3-6G3},
experiment = {EXP:(DE-H253)P-P12-20150101},
typ = {PUB:(DE-HGF)11},
doi = {10.3204/PUBDB-2020-04692},
url = {https://bib-pubdb1.desy.de/record/452457},
}