We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor ge... more We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G-->C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C-->T transition in position -11 upstream from the start codon. The Arg11 variant occurs at a frequency of about 1% and the C-->T transition at a frequency of about 7% in German control subjects (n = 148). Allele frequencies observed in patients suffering from schizophrenia (n = 256) and bipolar affective disorder (n = 99) were similar. The deletion variant is characterized by a 21 bp deletion affecting codons 36 to 42 coding for amino acids Ala-Ala-Leu-Val-Gly-Gly-Val located in the first transmembrane domain of the dopamine D4 receptor. The mutation was identified in a single individual suffering from obsessive-compulsive disorder and panic disorder. We were unable to detect the deletion in patients with schizophrenia and bipolar affective disorder, nor in healthy controls.
A possible dysregulation of dopaminergic neurotransmission has been implicated in a variety of ne... more A possible dysregulation of dopaminergic neurotransmission has been implicated in a variety of neuropsychiatric diseases. In the present study we systematically searched for the presence of mutations in the 5'-flanking region of the dopamine D1 receptor (DRD1) gene. This region has previously been shown to contain a functional promoter [Minowa et al., 1992: Proc Natl Acad Sci 89:3045-3049; Minowa et al., 1993: J Biol Chem 268:23544-23551]. We investigated 119 unrelated individuals (including 36 schizophrenic patients, 38 bipolar affective patients, and 45 healthy controls) using single-strand conformation analysis (SSCA). Eleven overlapping PCR fragments covered 2,189 bp of DNA sequence. We identified six single base substitutions: -2218T/C, -2102C/A, -2030T/C, -1992G/A, -1251G/C, and -800T/C. None of the mutations was found to be located in regions which have important influence on the level of transcriptional activity. Allele frequencies were similar in patients and controls, indicating that genetic variation in the 5'-regulatory region of the DRD1 gene is unlikely to play a frequent, major role in the genetic predisposition to either schizophrenia or bipolar affective disorder.
ABSTRACT The middle atmosphere Alomar radar system (MAARSY) at the island of Andøya (69°N, 16°E) ... more ABSTRACT The middle atmosphere Alomar radar system (MAARSY) at the island of Andøya (69°N, 16°E) is an active phased array antenna with a peak power of 866 kW. The complete aperture results in an approximately 3.6° small beam width. The radar combines multi-channel recording and flexible beam steering capabilities to measure atmospheric winds in the troposphere and mesosphere with high temporal and spatial resolution. The advanced beam steering possibilities are used to conduct systematic scanning experiments. These experiments are suitable to perform velocity azimuth displays (VAD) at multiple off-zenith angles to derive the kinematic properties within the different scanning volumes. Our tropospheric and mesospheric experiments are analyzed using the VAD technique to derive additional information about the horizontal divergence, a mean wind field, as well as stretching and shearing deformation.
ABSTRACT The novel Middle Atmosphere ALOMAR Radar System (MAARSY) has been used to study radar ec... more ABSTRACT The novel Middle Atmosphere ALOMAR Radar System (MAARSY) has been used to study radar echoes from mid mesospheric altitudes, i.e., from ~60 - 80 km. Compared to previously used radar systems, MAARSY possesses a much enhanced sensitivity for the detection of these echoes due to its large transmitted power of ~800 kW and an antenna aperture of approximately 6300 m2. Owing to this large sensitivity, echoes have been observed throughout the entire year but show a pronounced maximum of occurrence during winter months. The echoes further reveal a clear diurnal variation which is mainly driven by the diurnal variation of Ly-α ionization in this lowermost part of the ionosphere which is further modulated by geomagnetic activity. In addition, the diurnal occurrence pattern over altitude provides evidence for a relation of these echoes to tidal downward phase propagation. This is further scrutinized by comparison of the diurnal echo morphology to the corresponding morphology of tidal wind structures in the same altitude range as observed with collocated MF-radars. The same MF-radar observations are further used to investigate the frequency dependence of the observed echoes promising insight into the underlying scattering mechanism. This is important since the scattering mechanism is currently debated between two major hypotheses. One of these is invoking infrasound propagation and viscosity waves and the other is proposing neutral air turbulence as the main physical process creating these echoes. Finally, we also present some first multi-beam observations of these echoes which allow us to determine their horizontal structure and study their relation to horizontal wave propagation.
We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor ge... more We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G-->C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C-->T transition in position -11 upstream from the start codon. The Arg11 variant occurs at a frequency of about 1% and the C-->T transition at a frequency of about 7% in German control subjects (n = 148). Allele frequencies observed in patients suffering from schizophrenia (n = 256) and bipolar affective disorder (n = 99) were similar. The deletion variant is characterized by a 21 bp deletion affecting codons 36 to 42 coding for amino acids Ala-Ala-Leu-Val-Gly-Gly-Val located in the first transmembrane domain of the dopamine D4 receptor. The mutation was identified in a single individual suffering from obsessive-compulsive disorder and panic disorder. We were unable to detect the deletion in patients with schizophrenia and bipolar affective disorder, nor in healthy controls.
A possible dysregulation of dopaminergic neurotransmission has been implicated in a variety of ne... more A possible dysregulation of dopaminergic neurotransmission has been implicated in a variety of neuropsychiatric diseases. In the present study we systematically searched for the presence of mutations in the 5'-flanking region of the dopamine D1 receptor (DRD1) gene. This region has previously been shown to contain a functional promoter [Minowa et al., 1992: Proc Natl Acad Sci 89:3045-3049; Minowa et al., 1993: J Biol Chem 268:23544-23551]. We investigated 119 unrelated individuals (including 36 schizophrenic patients, 38 bipolar affective patients, and 45 healthy controls) using single-strand conformation analysis (SSCA). Eleven overlapping PCR fragments covered 2,189 bp of DNA sequence. We identified six single base substitutions: -2218T/C, -2102C/A, -2030T/C, -1992G/A, -1251G/C, and -800T/C. None of the mutations was found to be located in regions which have important influence on the level of transcriptional activity. Allele frequencies were similar in patients and controls, indicating that genetic variation in the 5'-regulatory region of the DRD1 gene is unlikely to play a frequent, major role in the genetic predisposition to either schizophrenia or bipolar affective disorder.
ABSTRACT The middle atmosphere Alomar radar system (MAARSY) at the island of Andøya (69°N, 16°E) ... more ABSTRACT The middle atmosphere Alomar radar system (MAARSY) at the island of Andøya (69°N, 16°E) is an active phased array antenna with a peak power of 866 kW. The complete aperture results in an approximately 3.6° small beam width. The radar combines multi-channel recording and flexible beam steering capabilities to measure atmospheric winds in the troposphere and mesosphere with high temporal and spatial resolution. The advanced beam steering possibilities are used to conduct systematic scanning experiments. These experiments are suitable to perform velocity azimuth displays (VAD) at multiple off-zenith angles to derive the kinematic properties within the different scanning volumes. Our tropospheric and mesospheric experiments are analyzed using the VAD technique to derive additional information about the horizontal divergence, a mean wind field, as well as stretching and shearing deformation.
ABSTRACT The novel Middle Atmosphere ALOMAR Radar System (MAARSY) has been used to study radar ec... more ABSTRACT The novel Middle Atmosphere ALOMAR Radar System (MAARSY) has been used to study radar echoes from mid mesospheric altitudes, i.e., from ~60 - 80 km. Compared to previously used radar systems, MAARSY possesses a much enhanced sensitivity for the detection of these echoes due to its large transmitted power of ~800 kW and an antenna aperture of approximately 6300 m2. Owing to this large sensitivity, echoes have been observed throughout the entire year but show a pronounced maximum of occurrence during winter months. The echoes further reveal a clear diurnal variation which is mainly driven by the diurnal variation of Ly-α ionization in this lowermost part of the ionosphere which is further modulated by geomagnetic activity. In addition, the diurnal occurrence pattern over altitude provides evidence for a relation of these echoes to tidal downward phase propagation. This is further scrutinized by comparison of the diurnal echo morphology to the corresponding morphology of tidal wind structures in the same altitude range as observed with collocated MF-radars. The same MF-radar observations are further used to investigate the frequency dependence of the observed echoes promising insight into the underlying scattering mechanism. This is important since the scattering mechanism is currently debated between two major hypotheses. One of these is invoking infrasound propagation and viscosity waves and the other is proposing neutral air turbulence as the main physical process creating these echoes. Finally, we also present some first multi-beam observations of these echoes which allow us to determine their horizontal structure and study their relation to horizontal wave propagation.
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Papers by G. Stober