Similarity between existing and new <i>T. scripta</i> sequences.

<p>Existing <i>T. scripta</i> sequences in Genbank were used as queries in a BLASTN search of our assembled sequences. The BLAST HSP sizes represent the sizes of the sequence matches between existing sequences and new <i>T. scripta</i> transcriptome assembly sequences.</p

RT-PCR of developmentally important genes from a stage 17 <i>T. scripta</i> cDNA pool.

<p>RT-PCR of developmentally important genes from a stage 17 <i>T. scripta</i> cDNA pool.</p

<i>BMP5</i> expression in a stage 15 <i>T. scripta</i> embryo.

<p><i>BMP5</i> expression is associated with the developing vertebrae in the cervical region and the newly formed somites in the tailbud. In addition, BMP5 is expressed in the anterior and posterior margins of the autopod, and in the apical ectodermal ridge of the developing limb buds (A and B antisense, C sense).</p

TCA cycle enzymes present in the <i>T. scripta</i> developmental transcriptome.

<p>Predicted proteins in the transcriptome were mapped to the TCA KEGG metabolic pathway using Blast2Go.</p

Identification of <i>T. scripta BMP2</i>-<i>7</i> genes.

<p>The <i>T. scripta</i> transcriptome was queried with BMP protein sequences from other organisms. Sequences were aligned and excessively gapped positions were removed (final size of dataset = 285aa/species). Their ML relationships were inferred using MetaPIGA. Labels on nodes indicate posterior probabilities. Scale bar units are the number of amino acid substitutions per site. Accession numbers are to the right of each sequence name.</p

Top protein hits by species.

<p>The number of top BLAST hits and the number of sequences in the NCBI protein database per species were used to calculate the enrichment in top hits per species relative to the number of sequences in the database. The top half of the table lists the top nine species, the bottom half compares the combined hits for all birds with the hits to the Carolina Anole Lizard.</p

Microcephaly and chorioretinopathy due to a homozygous <i>TUBGCP6</i> mutation.

<p>(<b>A</b>) An affected infant has marked microcephaly (>4SD below normal), a receding forehead, diminutive anterior fontanelle, and sutural ridging. She has cognitive delay and visual impairment but is socially engaged. (<b>B</b>) Head circumference and length plots for Mennonite microcephaly patients. (<b>C</b>) Brain magnetic resonance imaging (MRI) shows diffuse pachygyria, normal myelination, and (<b>D</b>) a hypoplastic cerebellar vermis.</p

Genetic mapping of seven Plain disorders.

<p>The results of autozygosity mapping using Affymetrix GeneChip 10 K or 50 K SNP microarrays are plotted for each disorder. The x-axis depicts chromosomal location on autosomes. Yellow peaks represent the number of contiguous homozygous SNPs shared by affected individuals and the purple peaks depict location scores. (<b>A</b>) Autozygosity mapping of two affected individuals identified a single, large block of homozygosity on chromosome 6 (yellow peak). Genotyping of 6 unaffected siblings excluded this homozygous block, but identified 12 genomic regions greater than 5 Mb in size (red peaks) that were consistent with linkage in the family. (<b>B</b>) List of genomic regions consistent with linkage in the single nuclear family with infantile parkinsonism-dystonia syndrome. Panels <b>C–H</b> provide mapping plots for the other 6 disorders. For two disorders (<b>C,D</b>), 50 K microarrays were used after 10 K microarrays failed to unequivocally localize the disease gene. The other four disorders (<b>E–H</b>) were mapped with 10 K microarrays.</p

Overexpression of mouse HARS in mIMCD3 cells.

<p>(<b>A</b>) Wild-type N-terminal FLAG-HARS localizes to the cytoplasm. (<b>B</b>) Mutant N-terminal FLAG-HARS (p.Tyr454Ser) localizes to the cytoplasm in a manner that is indistinguishable from the wild-type localization shown in <b>A</b>. Transfected and non-transfected cells were labeled with anti-FLAG M2 monoclonal antibody and AlexaFluor 488-conjugated anti-mouse IgG₁ (green fluorescence). (<b>C</b>) Reaction velocity vs. human tRNA^His concentration for histidine aminoacylation of tRNA^His by wild-type murine HARS (HARS) and p.Tyr454Ser (Y454S) HARS. Scale bar = 10 µm in <b>A</b> and <b>B</b>.</p

Pathogenic Variant Summary.

<p>Pathogenic Variant Summary.</p