Neuroblastoma-associated regulator gene
AssigneesBoehringer Ingelheim International GmbH, Genentech, Inc.
InventorsWilfried Ellmeier, Andreas Weith
Life of this patent
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Abstract
Disclosed is a gene situated in the region of the neuroblastoma consensus deletion 1p36.2-p36.1 which codes for a helix-loop-helix protein with the designation HEIR-1. The loss of this gene is significantly correlated with allelic tumor deletions in neuroblastomas and expression of this correlates inversely both N-myc overexpression in tumors and with N-myc expression in normal development. The cDNA and antibodies coding for HEIR-1 are used for the diagnosis of pathological conditions associated with aberration in the region of the neuroblastoma consensus deletion.
Claims16
A process for aiding in the diagnosis of neuroblastoma in humans associated with a consensus deletion of human chromosome region 1p36p12, comprising assaying a sample for the presence of
- a) human DNA which codes for a Helix-Loop-Helix protein (HEIR-1), wherein the nucleotide sequence of the coding region of HEIR-1 comprises the nucleotide sequence given as SEQ ID NO:
- 3;
- b) the RNA transcribed from said DNA;
- or
- c) the gene product expressed from said RNA;
- wherein the absence of DNA having the nucleotide sequence of the coding region of HEIR-1 from at least one allele, or the absence of the RNA transcribed from said DNA, or the absence of the gene product expressed from said RNA, indicates that said sample
- i) comprises neuroblastoma tissue;
- or
- ii) comprises tissue of an individual with an increased susceptibility to neuroblastoma;
- or
- iii) is derived from a neuroblastoma patient, respectively.
A process for detecting the presence of either (i) human DNA which codes for a Helix-Loop-Helix protein (HEIR-1), wherein the nucleotide sequence of the coding region of HEIR-1 comprises the nucleotide sequence of SEQ ID NO:
- 3, (ii) the RNA transcribed from said DNA, or (iii) the gene product expressed from said RNA, comprising assaying a sample for the presence of
- a) said human DNA which codes for a Helix-Loop-Helix protein (HEIR-1), wherein the nucleotide sequence of the coding region of HEIR-1 comprises the nucleotide sequence given in SEQ ID NO:
- 3;
- b) the RNA transcribed from said DNA;
- or
- c) the gene product expressed from said RNA, respectively.
A process for aiding in the diagnosis of neuroblastoma in humans associated with a consensus deletion of human chromosome region 1p36p12, comprising assaying a sample for the presence of
- a) human DNA which codes for a Helix-Loop-Helix protein (HEIR-1), wherein the nucleotide sequence of the coding region of HEIR-1 comprises the nucleotide sequence of SEQ ID NO:
- 3;
- b) the RNA transcribed from said DNA;
- or
- c) the gene product expressed from said RNA;
- wherein the absence of DNA having the nucleotide sequence of the coding region of HEIR-1 from at least one allele, or the absence of the RNA transcribed from said DNA, or the absence of the gene product expressed from said RNA, respectively, indicates that said sample comprises neuroblastoma tissue.
Dependencies are inferred from the claim text.