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Fig. 1 | Genome Biology

Fig. 1

From: TLE6 mutation causes the earliest known human embryonic lethality

Fig. 1

Two families with primary infertility link to a mutation in TLE6. a The two affected sisters from Family 1 were separately subjected to whole exome sequencing following the indicated pipeline. Each sister was examined based only on her own regions of homozygosity (ROH), and the only surviving variant was found common to both. b High density genotyping output for chromosome 19p (using AutoSNPa software [10]), with red indicating heterozygosity and black homozygosity. The three affected women share an identical haplotype which encompasses 42 genes, based on UCSC Human Genome Browser data. c DNA chromatogram of the TLE6 mutation, with a normal control sequence for comparison. d TLE6 orthologues appear to be present only in mammals, wherein there is universal conservation of the affected serine residue (boxed). Sequence data were acquired on NCBI-BLAST then collated using Multalin [28]. e Serine 510 is located within a cluster of WD40 domain repeats that make up most of the protein’s C-terminal half

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