Figure 2.
Figure 2. Fusion of FIP1L1 to PDGFRA. (A) Schematic representation of the FIP1L1, PDGFRα, and FIP1L1-PDGFRα fusion proteins. NLS indicates nuclear localization signal; TM, transmembrane region; and JM, juxtamembrane region. (B) Schematic representation of the 4q12 chromosomal region around the FIP1L1 and PDGFRA genes. The 800-kb deletion, resulting in the fusion of the 5′ part of FIP1L1 to the 3′ part of PDGFRA, and the location of 3 bacterial artificial chromosome (BAC) probes (RPCI11-120K16, RPCI11-3H20, and RPCI11-24O10) are indicated. cen indicates centromeric side; and tel, telomeric side. (C) Detection of the del(4)(q12q12) in an HES case by interphase FISH using the BAC probes shown in panel B. Absence of probe 3H20 and presence of the 2 flanking probes is indicative of the presence of this specific deletion on one of the chromosomes 4.

Fusion of FIP1L1 to PDGFRA. (A) Schematic representation of the FIP1L1, PDGFRα, and FIP1L1-PDGFRα fusion proteins. NLS indicates nuclear localization signal; TM, transmembrane region; and JM, juxtamembrane region. (B) Schematic representation of the 4q12 chromosomal region around the FIP1L1 and PDGFRA genes. The 800-kb deletion, resulting in the fusion of the 5′ part of FIP1L1 to the 3′ part of PDGFRA, and the location of 3 bacterial artificial chromosome (BAC) probes (RPCI11-120K16, RPCI11-3H20, and RPCI11-24O10) are indicated. cen indicates centromeric side; and tel, telomeric side. (C) Detection of the del(4)(q12q12) in an HES case by interphase FISH using the BAC probes shown in panel B. Absence of probe 3H20 and presence of the 2 flanking probes is indicative of the presence of this specific deletion on one of the chromosomes 4.

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