length (amino acids) 5597 Low, GNF Expression Atlas 2 Data from U133A and GNF1H Chips, (Merla et al 2002 Table 3 p. 434)

Transcription

1 S1 Other genes involved in Williams syndrome Gene name or alias Chromosomal location NSUN5/NOL1R/WBSCR20 chr7: Gene Areas of expression length (amino acids) 5597 Low, GNF Expression Atlas 2 Data from U133A and GNF1H Chips, (Merla et al 2002 Table 3 p. 434) Gene function This gene encodes a protein with similarity to p120 (NOL1), a 120-kDa proliferation-associated nucleolar antigen that is a member of an evolutionarily conserved protein family. Alternative splicing of this gene results in two transcript variants encoding different isoforms. TRIM50A chr7: Very low in cerebellum,gnf Expression Atlas 2 Data from U133A and GNF1H Chips Tripartite motif protein 50C FKBP6 chr7: Cortex, thalamus, corpus collosum, GNF Expression Atlas 1 Human Data on Affy U95 Chips FK506-binding protein 6 (EC ) (Peptidyl-prolyl cis-trans isomerase) (PPIase) (Rotamase) (36 kda FK506 binding protein) (FKBP- 36) (Immunophilin FKBP36).

2 FZD9 BAZ1B chr7: chr7: Thalamus, GNF Expression Atlas 1 Human Data on Affy U95 Chips Ubiquitously expressed with high levels of expression in heart, brain, placenta, skeletal muscle and ovary. UniProt Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. Alternative splicing of this gene generates at least 2 transcript variants. BCL7B chr7: Whole brain expression, GNF Expression Atlas 2 Data from U133A and GNF1H Chips. The protein encoded by this gene contains a region that is highly similar to the N-terminal segment of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported.

3 TBL2 chr7: No known brain This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. MLXIPL/WBSCR14 chr7: No known brain This gene encodes a basic helixloop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. WBSCR18 chr7: Expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis per uniprot. This intronless gene encodes a member of the DNAJ molecular chaperone homology domaincontaining protein family. WBSCR22 chr7: No known brain Putative methyltransferase WBSCR22 VPS37D /WBSCR24 chr7: No data. Theorical. vacuolar protein sorting 37D (yeast)

4 STX1A chr7: Isoform 1 is highly expressed in embryonic spinal chord and ganglia and in adult cerebellum and cerebral cortex. Isoform 2 is expressed in heart, liver, fat, skeletal muscle, kidney and brain. Uniprot, GNF Expression Atlas 2 Data from U133A and GNF1H Chips, GNF Expression Atlas 1 Human Data on Affy U95 Chips Synaptic vesicles store neurotransmitters that are released during calcium-regulated exocytosis. The specificity of neurotransmitter release requires the localization of both synaptic vesicles and calcium channels to the presynaptic active zone. Syntaxins function in this vesicle fusion process. Syntaxins also serve as a substrate for botulinum neurotoxin type C, a metalloprotease that blocks exocytosis and has high affinity for a molecular complex that includes the alpha-latrotoxin receptor (MIM ) which produces explosive exocytosis (Zhang et al., 1995).[supplied by OMIM]. ABHD11/WBSCR21 chr7: Brain expression, Merla et al. Hum Genet 2002, 110: This gene encodes a protein containing an alpha/beta hydrolase fold domain.

5 CLDN3 chr7: No known brain Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. CLDN4 chr7: No known brain This gene encodes an integral membrane protein, which belongs to the claudin family. The protein is a component of tight junction strands and may play a role in internal organ development and function during

6 pre- and postnatal life. WBSCR27 chr7: No data. This gene encodes a protein belonging to ubie/coq5 methyltransferase family. WBSCR28* chr7: Possible low expression in caudate. GNF Expression Atlas 2 Data from U133A and GNF1H Chips hypothetical protein WBSCR1 chr7: The short isoform is the predominant isoform and is expressed alone in liver and skeletal muscle. Both isoforms are expressed in fibroblast, spleen, testis and bone marrow. Levels are high in lung and pancreas and low in heart, frontal cortex and kidney. Uniprot. This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mrna utilization. Alternative splicing of this gene generates 2 transcript variants

7 LAT2/WBSCR5 chr7: No known brain Involved in FCER1 (high affinity immunoglobulin epsilon receptor)- mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitement of GRB2. RFC2 chr7: Faint expression in Normal human Tissue cdna Microarrays The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also called activator 1, is a protein complex consisting of five distinct subunits of 145, 40, 38, 37, and 36.5 kd. This gene encodes the 40 kd subunit, which has been shown to be responsible for binding ATP. Alternatively spliced transcript variants encoding distinct isoforms have been described.

8 Table was compiled from the University of California, Santa Cruz February 2006 Assembly and Merla et al. (Merla, G., Ucla, C., Guipponi, M. & Reymond, A. Identification of additional transcripts in the Williams Beuren syndrome critical region. Hum. Genet. 110, (2002).