PMC:1892049 / 28692-31559 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/1892049","sourcedb":"PMC","sourceid":"1892049","source_url":"http://www.ncbi.nlm.nih.gov/pmc/1892049","text":"Supporting Information\nFigure S1 Schematic of Genotyping Results across Mouse Chromosome 6 in Affected Mice\nBlack squares are indicative of a C57BL/6J homozygous genotype; light grey squares, a 129x1/SvJ homozygous genotype; grey squares, a C57BL/6J 129x1/SvJ heterozygous genotype; white squares, undetermined genotype. The black box bounds a region of homozygous 129x1/SvJ genotypes that segregate with disease; thus, the critical region was determined to be between markers D6Mit37 and 44.MMHAP85FLG5.\n(10 MB TIF)\nClick here for additional data file.\nFigure S2 Sequence of Exon 36 of Itpr1 from Four Mice\nA wild-type homozygous C57BL/6J mouse (A), a wild-type homozygous 129x1/SvJ mouse (B), an affected 129x1B6 mice homozygous for the 18-bp deletion mutation (C), and an unaffected mouse heterozygous for the 18-bp deletion mutation (D). The deleted nucleotides are bounded by a green box.\n(5.1 MB TIF)\nClick here for additional data file.\nFigure S3 Additional Families Harboring Deletion at the SCA15 Locus\n(A) Family H33; (B) family H27. Upper panel shows log R ratio and B allele frequency metrics generated from Infinium HumanHap550 arrays for an affected family member from each family. Log R ratio is the ratio of normalized, observed R to expected R for each SNP (each SNP is a blue dot) and thus serves as a surrogate of copy number at each locus. B allele frequency is a measure of the number of times the A or B alleles are detected at each locus (each SNP is denoted by a blue dot). Thus, SNPs with a B allele frequency of one are apparent B/B homozygotes, SNPs with a B allele frequency of 0.5 are apparent A/B heterozygotes, and those with a B allele frequency of zero are apparent A/A homozygotes. These plots show a contiguous region ~310 kb long (family H33) and ~350 kb long (family H27) with decreased copy number and apparent homozygosity indicative of a genomic deletion (shaded grey). The pedigrees below show the available family members assayed for these deletions, all of whom were affected and all of whom carried a deletion at this locus.\n(6.8 MB TIF)\nClick here for additional data file.\nFigure S4 Deleted Regions Identified in Families AUS1 and H27\n(Top) Family AUS1; sequence from the PCR product generated using primers T3f and C11r from genomic DNA from an affected family member. Red arrowhead denotes the deletion breakpoint; the deletion is 201,510 bp in length.\n(Bottom) Family H27; sequence flanking deleted region. Green font indicates nucleotides telomeric to the deletion; blue font indicates nucleotides centromeric to the deletion. The deletion is 344,408 bp in length. Basepair positions are based on NCBI genome build 36 reference assembly.\n(876 KB MB TIF).\nClick here for additional data file.\n\nAccession Numbers\nThe OMIM (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM) accession number for SUMF1 is 607939.","divisions":[{"label":"title","span":{"begin":0,"end":22}},{"label":"label","span":{"begin":23,"end":32}},{"label":"caption","span":{"begin":34,"end":517}},{"label":"title","span":{"begin":34,"end":108}},{"label":"p","span":{"begin":109,"end":505}},{"label":"p","span":{"begin":506,"end":517}},{"label":"caption","span":{"begin":518,"end":554}},{"label":"p","span":{"begin":518,"end":554}},{"label":"label","span":{"begin":555,"end":564}},{"label":"caption","span":{"begin":566,"end":908}},{"label":"title","span":{"begin":566,"end":609}},{"label":"p","span":{"begin":610,"end":895}},{"label":"p","span":{"begin":896,"end":908}},{"label":"caption","span":{"begin":909,"end":945}},{"label":"p","span":{"begin":909,"end":945}},{"label":"label","span":{"begin":946,"end":955}},{"label":"caption","span":{"begin":957,"end":2084}},{"label":"title","span":{"begin":957,"end":1014}},{"label":"p","span":{"begin":1015,"end":2071}},{"label":"p","span":{"begin":2072,"end":2084}},{"label":"caption","span":{"begin":2085,"end":2121}},{"label":"p","span":{"begin":2085,"end":2121}},{"label":"label","span":{"begin":2122,"end":2131}},{"label":"caption","span":{"begin":2133,"end":2708}},{"label":"title","span":{"begin":2133,"end":2184}},{"label":"p","span":{"begin":2185,"end":2404}},{"label":"p","span":{"begin":2405,"end":2691}},{"label":"p","span":{"begin":2692,"end":2708}},{"label":"caption","span":{"begin":2709,"end":2745}},{"label":"p","span":{"begin":2709,"end":2745}},{"label":"title","span":{"begin":2747,"end":2764}}],"tracks":[]}