Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter to the Editor
  • Published:

Hornerin gene was involved in a case of acute myeloid leukemia transformed from myelodysplastic syndrome with t(1;2)(q21;q37)

Leukemia volume 20, pages 2184–2187 (2006)Cite this article

1q21–25 is one of the ‘hotspots’ of chromosomal alteration, including duplications and translocations, frequently detected in hematological malignancies. As a consequence of these aberrations, genes may become deregulated or fusion genes may be formed and interfere with the normal programs of cell growth and differentiation. We report here on a patient with t (1;2)(q21;q37) occurring in acute myeloid leukemia (AML) with antecedent myelodysplastic syndrome (MDS).

Chromosome translocation breakpoint on 1q21 was successfully narrowed into a region which was 15∼16 kb upstream to the 5′ end of the human Hornerin gene through combination of positional cloning strategy and fluorescence in situ hybridization (FISH) technique. Schema of genetic maps of 1q21 with STS markers as well as YAC, BAC/PAC and plasmid contigs localized around the breakpoint on chromosome 1q21 was shown in Figure 1a (Public database referred: http://www.gdb.org, http://www-genome.wi.mit.edu, http://www.ncbi.nlm.nih.gov/mapview/, http://www.ensembl.org/index.html, http://bacpac.chori.org and http://www.tigr.org/tdb). YAC clones were obtained from CEPH MEGA YAC library and BAC/PAC clones were purchased from BAC/PAC Resource Center (BPRC) (http://bacpac.chori.org). Dual-color FISH using labeled YAC, BAC/PAC or plasmid clones on metaphase of BM cells from case #30 were performed as previously described.1, 2 Through FISH/positional cloning procedure illustrated in Figure 1, we demonstrated that the translocation breakpoint on 1q21 was within the chromosome region of approximately 20 kb between BAC clones CIT-HSP-2301M16 and R-947A10 (Figure 1f), which was just covered by BAC clone RP11–107M16 (Figure 1e).

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2

Accession codes

Accessions

GenBank/EMBL/DDBJ

References

  1. Pelliccia F, Limongi MZ, Gaddini L, Russo MT, Rocchi A . Cytogenetic mapping of five YAC clones to human chromosome region 2q31 – >q32.1 in relation to the FRA2G common fragile site. Genetica 2002; 115: 269–272.

    Article  Google Scholar 

  2. Gu BW, Wang Q, Wang JM, Xue YQ, Fang J, Wong KF et al. Major form of NUP98/HOXC11 fusion in adult AML with t(11;12)(p15;q13) translocation exhibits aberrant trans-regulatory activity. Leukemia 2003; 17: 1858–1864.

    Article  CAS  Google Scholar 

  3. Takaishi M, Makino T, Morohashi M, Huh NH . Identification of human hornerin and its expression in regenerating and psoriatic skin. J Biol Chem 2005; 280: 4696–4703.

    Article  CAS  Google Scholar 

  4. Emberley ED, Murphy LC, Watson PH . S100 proteins and their influence on pro-survival pathways in cancer. Biochem Cell Biol 2004; 82: 508–515.

    Article  CAS  Google Scholar 

  5. Boni R, Burg G, Doguoglu A, Ilg EC, Schafer BW, Muller B et al. Immunohistochemical localization of the Ca2+ binding S100 proteins in normal human skin and melanocytic lesions. Br J Dermatol 1997; 137: 39–43.

    Article  CAS  Google Scholar 

  6. Camby I, Nagy N, Lopes MB, Schafer BW, Maurage CA, Ruchoux MM et al. Supratentorial pilocytic astrocytomas, astrocytomas, anaplastic astrocytomas and glioblastomas are characterized by a differential expression of S100 proteins. Brain Pathol 1999; 9: 1–19.

    Article  CAS  Google Scholar 

  7. Davey GE, Murmann P, Heizmann CW . Intracellular Ca2+ and Zn2+ levels regulate the alternative cell density-dependent secretion of S100B in human glioblastoma cells. J Biol Chem 2001; 276: 30819–30826.

    Article  CAS  Google Scholar 

  8. Nirunsuksiri W, Presland RB, Brumbaugh SG, Dale BA, Fleckman P . Decreased profilaggrin expression in ichthyosis vulgaris is a result of selectively Impaired posttranscriptional control. J Biol Chem 1995; 270: 871–876.

    Article  CAS  Google Scholar 

  9. Makino T, Takaishi M, Morohashi M, Huh NH . Hornerin, a novel profilaggrin-like protein and differentiation-specific marker isolated from mouse skin. J Biol Chem 2001; 276: 47445–47452.

    Article  CAS  Google Scholar 

Download references

Author information

Author notes

  1. L Wang and Y-Y Wang: These authors have contributed equally to this work.

Authors and Affiliations

  1. State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology (SIH), Rui Jin Hospital affiliated to School of Medicine, Shanghai Jiao Tong University, Shanghai, China

    L Wang, Y-Y Wang, Q Cao, Z Chen & S-J Chen

Authors
  1. L Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Y-Y Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Q Cao
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Z Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. S-J Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wang, L., Wang, YY., Cao, Q. et al. Hornerin gene was involved in a case of acute myeloid leukemia transformed from myelodysplastic syndrome with t(1;2)(q21;q37). Leukemia 20, 2184–2187 (2006). https://doi.org/10.1038/sj.leu.2404436

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.leu.2404436

Search

Advanced search

Quick links