Structure and function of human THPO gene (NM_000460) and telomere length analysis. (A) THPO isoform 1 precursor (chr3q27.1:184 089,773-184 095,9326 160) is extensively alternatively spliced with multiple isoforms (http://genome.ucsc.edu/). Note that THPO is transcribed on the reverse strand. (B) Predicted functional partners of THPO gene (http://string-db.org/). Modes of interaction are shown in different colors with stronger associations represented by thicker lines. Combined score in parentheses. CCND3, cyclin D3 (0.939); EPO, erythropoietin (0.954); EPOR, erythropoietin receptor (0.899); HOXB4, homeobox B4 (0.932); JAK2, Janus kinase 2 (0.895); KITLG, KIT ligand (0.944); MPL, myeloproliferative leukemia virus oncogene (0.999); MYB, v-myb myeloblastosis viral oncogene homolog (avian) (0.892); SH2B3, SH2B adaptor protein 3 (0.944); USF1, upstream transcription factor 1 (0.931). (C) Telomere length in peripheral blood leukocytes is normal in proband and family. Telomere length was determined in the affected proband (black circle) and asymptomatic family members (red circles) by qPCR method and compared with healthy volunteers (yellow circles). No statistical difference was observed in telomere length of the proband or any other family member and control individuals.