Figure 2
Figure 2. Chromosome 3q deletion mapping in 2 DBA probands. Genomic map of chromosome 3q deletions with combined deletion mapping and RNA expression microarray identifies 3q candidate genes for DBA. Vertical bars through the chromosome 3 map with G-banding pattern indicate the deleted region, which is enlarged above. Contig coverage is shown by horizontal lines below the chromosome ideogram. Black horizontal bars indicate the position of each deletion in relation to known genes on chromosome 3q28-ter. The larger deletion begins in intron 7 of LPP and spans approximately 10 megabases, including 3 contigs (NT_005612, NT_005535, NT_029928) with 2 gaps totaling an estimated 47 kb (NCBI Build 36.1). The smaller deletion begins in the intergenic region between HES1 and CPN2 and spans over 4 megabases. The position of a previously described 3q microdeletion syndrome, which was not associated with DBA or hematologic abnormalities, is also indicated.24 Regions of 3q which were either not involved in both DBA deletions or include the 3q microdeletion syndrome region (shaded gray) were considered improbable for candidate genes. Seven genes (noted in black), which lie in the intervals defined by these deletions, also demonstrated haploinsufficient expression in deletion 1 EBV LCL. RPL35A, a gene encoding a structural component of the large ribosomal subunit, is located within the extreme terminal region of the chromosome 3q deletions.

Chromosome 3q deletion mapping in 2 DBA probands. Genomic map of chromosome 3q deletions with combined deletion mapping and RNA expression microarray identifies 3q candidate genes for DBA. Vertical bars through the chromosome 3 map with G-banding pattern indicate the deleted region, which is enlarged above. Contig coverage is shown by horizontal lines below the chromosome ideogram. Black horizontal bars indicate the position of each deletion in relation to known genes on chromosome 3q28-ter. The larger deletion begins in intron 7 of LPP and spans approximately 10 megabases, including 3 contigs (NT_005612, NT_005535, NT_029928) with 2 gaps totaling an estimated 47 kb (NCBI Build 36.1). The smaller deletion begins in the intergenic region between HES1 and CPN2 and spans over 4 megabases. The position of a previously described 3q microdeletion syndrome, which was not associated with DBA or hematologic abnormalities, is also indicated.24  Regions of 3q which were either not involved in both DBA deletions or include the 3q microdeletion syndrome region (shaded gray) were considered improbable for candidate genes. Seven genes (noted in black), which lie in the intervals defined by these deletions, also demonstrated haploinsufficient expression in deletion 1 EBV LCL. RPL35A, a gene encoding a structural component of the large ribosomal subunit, is located within the extreme terminal region of the chromosome 3q deletions.

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