Figure 5.

Inherited deletion in intron 2 of GATA4, in a region that overlaps an enhancer conserved in mouse and humans, found in CDH probands 411 and 967

(A–D) Samplot figures show coverage in gray (right y axis) and insert size between pair-end reads (left y axis), with split and discordant reads with mismatched insert size above 500 shown as bars. Paternal inheritance in proband 411 (A) and maternal inheritance in proband 967 (D) of intron 2 deletion.

(E) GATA4 intron 2 and 343 bp deleted region (red box) with tracks of gene location, conservation, DNase 1 hypersensitivity, and H3K27 acetylation in human lung fibroblasts. Bottom track shows enhancer element 2205 from the VISTA enhancer database, within which the deletion resides. Built on the hg19 human reference genome.

(F) Pairwise alignment of 343 bp region deletion in CDH families to the orthologous region in the mouse genome (mm9 reference genome). Track 1, consensus sequence; track 2, base pair identity; track 3, human (hg19) sequence; track 4, mouse (mm9) minus strand sequence.