# US 2019/0316154 A1 · Erythroid-specific promoter and method of use thereof

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- Number: US 2019/0316154 A1
- Document ID: US20190316154A1
- Status: Published application
- Kind: A1
- Application number: 16/309,289
- Filed: 2017-07-05
- Published: 2019-10-17
- Earliest claimed: 2016-07-07
- Assignees: St. Jude Children's Research Hospital
- Applicants: St. Jude Children's Research Hospital
- Inventors: Byoung Ryu; Matthew M. Wielgosz; Francesca Ferrara
- Web page: https://patentgrep.com/patent/US20190316154A1

## CPC

- C12N 15/111: {General methods applicable to biologically active non-coding nucleic acids}
- C12N 15/86: Viral vectors
- C07K 14/47: from mammals
- A61K 48/00: Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
- C12N 2330/51: Specially adapted vectors
- C12N 2740/15043: viral genome or elements thereof as genetic vector
- C12N 2740/16043: viral genome or elements thereof as genetic vector
- C12N 2830/008: cell type or tissue specific enhancer/promoter combination
- C12N: MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA (microbiological testing media C12Q1/00)
- C07K: PEPTIDES (peptides in foodstuffs A23; obtaining protein compositions for foodstuffs, working-up proteins for foodstuffs A23J; preparations for medicinal purposes A61K; peptides containing beta-lactam rings C07D; cyclic dipeptides not having in their molecule any other peptide link than those which form their ring, e.g. piperazine-2,5-diones, C07D; ergot alkaloids of the cyclic peptide type C07D519/02; macromolecular compounds having statistically distributed amino acid units in their molecules, i.e. when the preparation does not provide for a specific; but for a random sequence of the amino acid units, homopolyamides and block copolyamides derived from amino acids C08G69/00; macromolecular products derived from proteins C08H1/00; preparation of glue or gelatine C09H; single cell proteins, enzymes C12N; genetic engineering processes for obtaining peptides C12N15/00; compositions for measuring or testing processes involving enzymes C12Q; investigation or analysis of biological material G01N33/00)
- A61K: PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES (devices or methods specially adapted for bringing pharmaceutical products into particular physical or administering forms A61J3/00; chemical aspects of, or use of materials for deodorisation of air, for disinfection or sterilisation, or for bandages, dressings, absorbent pads or surgical articles A61L; soap compositions C11D)

## Abstract

A DNA construct containing an erythroid lineage-specific promoter operably linked to a nucleotide coding sequence of interest and a method of using the same in the prevention or treatment of a hematopoietic disorder such as a hemoglobinopathy are described. Further disclosed are erythroid-specific promoters and erythroid-specific enhancers that can be used in the DNA construct.

## Claims

### Claim 1

A DNA construct comprising:
an erythroid lineage-specific promoter from a glycophorin A gene; and
a nucleotide coding sequence operably linked to the promoter sequence.

### Claim 2 (depends on 1)

The DNA construct of claim 1, wherein the erythroid-specific promoter comprises SEQ ID NO:1.

### Claim 3 (depends on 1)

The DNA construct of claim 1, wherein the erythroid-specific promoter comprises SEQ ID NO:2.

### Claim 4 (depends on 1)

The DNA construct of claim 1, further comprising an erythroid-specific enhancer.

### Claim 5 (depends on 4)

The DNA construct of claim 4, wherein the erythroid-specific enhancer comprises a BCL11A+58 enhancer, GATA-1 enhancer or HS40 enhancer.

### Claim 6 (depends on 1)

The DNA construct of claim 1, wherein the nucleotide coding sequence encodes a RNA or protein.

### Claim 7 (depends on 6)

The DNA construct of claim 6, wherein the protein is an artificial zinc finger protein.

### Claim 8 (depends on 1)

The DNA construct of claim 1, wherein said construct comprises a gene therapy vector.

### Claim 9 (depends on 8)

The DNA construct of claim 8, wherein the gene therapy vector is a viral vector.

### Claim 10 (depends on 7)

A method for preventing or treating a hematopoietic disorder comprising administering to a subject in need of treatment an effective amount of the DNA construct of claim 7 thereby treating the subject's hematopoietic disorder.

### Claim 11 (depends on 10)

The method of claim 10, wherein the hematopoietic disorder is a hemoglobinopathy.

### Claim 12

A DNA construct comprising:
an erythroid lineage-specific glycophorin A, Ankyrin, beta-Spectrin or Adducine 2 promoter;
a BCL11A+58, GATA-1 or HS40 enhancer; and
a nucleotide sequence encoding a BCL11A inhibitory RNA molecule operably linked to the promoter.

### Claim 13 (depends on 12)

The DNA construct of claim 12, wherein the BCL11A inhibitory RNA is an siRNA, shmiR or shRNA.

### Claim 14 (depends on 12)

The DNA construct of claim 12, wherein said construct comprises a gene therapy vector.

### Claim 15 (depends on 14)

The DNA construct of claim 14, wherein the gene therapy vector is a viral vector.

### Claim 16 (depends on 12)

A method for preventing or treating a hematopoietic disorder comprising administering to a subject in need of treatment an effective amount of the DNA construct of claim 12 thereby treating the subject's hematopoietic disorder.

### Claim 17 (depends on 16)

The method of claim 16, wherein the hematopoietic disorder is a hemoglobinopathy.