Table 1: Autism Diagnostic Interview-Revised (ADI-R) algorithm domain scores
Identifier
Sex
Diagnosis
Y.O.B.
Social (cutoff=10)
Communication
(cutoff=8)
Repetitive
(cutoff=3)
Evident before 36
Verbal
months
AU078103
Female
Spectrum
1993
9
6
6
yes
yes
AU078104
Male
Autism
1995
20
22
8
yes
yes
AU078105
Male
Autism
1997
21
15
7
yes
yes
Simons Simplex Collection 13344.p1
Male
Autism
1998
24
14
11
yes
yes
Simons Simplex Collection 13344.s1
Female
Designated
sibling
2000
N/A
N/A
N/A
N/A
N/A
ASD collection
Autism Sequencing
Consortium
Autism Sequencing
Consortium
Autism Sequencing
Consortium
Supplemental Table 1:. Autism Diagnostic Interview-Revised (ADI-R) algorithm domain scores. Trained clinicians conducted the ADI-R and algorithm
scores were calculated. ADIR subdomain scores with diagnostic cutoffs are shown along with the autism cohort, subject identifier, sex, year of birth and verbal
capabilities of the individuals. Individuals received a diagnosis of “autism” or “spectrum” based on measures from the ADIR and Autism Diagnostic Observation
Schedule (ADOS).
DAT
STX1
Merge
STX1A
STX1B
p-STX1
5 µm
Supplemental Figure 1: SXT1A, STX1B and p-STX1 colocalize with DAT in the striatum. Striatal slices were reacted with anti-DAT antibodies (green) and the appropriate antiSTX1 antibodies (red) as indicated, processed, and imaged by confocal microscopy.
A
SCG neurons
presynaptic marker:
NET
p-STX1
merge
20 µm
1 µm
20 µm
B
SCG neurons
vehicle
p-STX1
AMPH
C
SCG neurons
STX1
CK2α
DIC
5 µm
merge
NET
5 µm
p-STX1/NET
(% control)
200
150
100
D
striatum
STX1
DAT
merge
DAT
merge
*
5 µm
50
p-STX1
0
5 µm
Supplemental Figure 2: AMPH treatment increases p-STX1 levels in boutons: (A) Mouse superior cervical ganglion (SCG) neurons were fixed and p-STX1 (green) was
visualized by immunoflourescence. The norepinephrine transporter (NET, red) was used as a marker of presynaptic boutons. The merge shows that p-STX1 is present in
presynaptic boutons of cultured catecholamine neurons. Inset: Confocal section of a single presynaptic bouton (arrow). (B) Top: SCG neurons were treated with either vehicle
or 10 µM AMPH for 20 minutes. Cells were fixed and immunostained for p-STX1 (green) and for the NET (red). AMPH increases the intensity of p-STX1 in presynaptic boutons.
Bottom: p-STX1 levels were quantified by the ratio of p-STX1 pixel intensity normalized to NET pixel intensity. AMPH significantly increases the intensity of p-STX1 in
presynaptic boutons (* = p < 0.05 by Student’s t-test; n = 5-6). (C) In SCG neurons cultured from NET KO mice, p-Stx1 colocalizes with CK2. (D) In mouse striatal slices, DAT colocalizes with STX1 and p-STX1.