Hair shape susceptibility gene

Patent metadata

Field	Value
Publication number	US-9243285-B2
Application number	US-201013500442-A
Country	US
Kind code	B2
Filing date	Oct 5, 2010
Priority date	Oct 5, 2009
Publication date	Jan 26, 2016
Grant date	Jan 26, 2016

Abstract

A genetic polymorphism and a hair shape susceptibility gene that are related to hair shape, and a method for determining the genetic susceptibility to hair shape in individual test subjects are provided. Disclosed is a hair shape susceptibility gene, which overlaps with a haplotype block in the 1q32.1 to 1q32.2 region (D1S249 to D1S2891) of human chromosome 1 and comprises a portion or the entirety of the base sequence of the haplotype block, wherein the haplotype block is determined by a linkage disequilibrium analysis conducted on a single nucleotide polymorphism (SNP) marker whose allele frequency differs statistically significantly between a group having a curly hair trait and a group having a non-curly hair trait, and consists of a base sequence set forth in any one of SEQ ID NO:1 to NO:3.

First claim

What is claimed is:

1. A method for evaluating or selecting a hair shape regulating agent, comprising the following steps (a) to (f):
(a) culturing cells in the presence of a test substance, wherein the cells are capable of expressing a human CSRP1 gene, or a protein encoded by the gene, and wherein the cells are selected from the group consisting of epidermal keratinocytes, human hair follicle tissue cells and hair root area-derived cells;
(b) measuring the amount of expression of the CSRP1 gene or the protein in the cells that were cultured in the presence of the test substance;
(c) selecting, based on the results of step (b), a test substance that decreases or increases the amount of expression of the gene or the protein, as compared to that in control cells cultured in the absence of the test substance;
(d) culturing a human hair follicle in organ culture in the presence of the test substance that is selected in step (c);
(e) determining the degree of curl of the hair follicle's hair shaft that occurs as a result of the culturing as compared to that of the hair shaft of a control hair follicle that is cultured in the absence of the test substance; and
(f) selecting a test substance from step (e) that both (i) increases or decreases the amount of expression of the gene or the protein in step (c) and (ii) alters the degree of curl of the hair follicle's hair shaft in step (e), as a hair shape regulating agent; wherein a test substance that increases the amount of expression and curl is selected as a hair curling agent and a substance that decreases the amount of expression and curl is selected as a hair straightening agent.

2. The method of claim 1 , wherein the test substance increases the amount of expression of the gene or the protein.

3. The method of claim 1 , wherein the test substance decreases the amount of expression of the gene or the protein.

4. The method of claim 1 , wherein the CSRP1 gene encodes a CSRP1 protein having the amino acid sequence of SEQ ID NO: 43.

5. The method of claim 4 , wherein the sequence of the CSRP1 gene is that of SEQ ID NO: 42.

6. The method of claim 1 , wherein the cells in step (a) are epidermal keratinocytes.

7. The method of claim 1 , wherein the cells in step (a) are human hair follicle tissue cells.

8. The method of claim 1 , wherein the cells in step (a) are hair root area-derived cells.

9. The method according to claim 1 , wherein step (f) is selecting a test substance that increases the amount of expression and curl as a hair curling agent.

10. The method according to claim 1 , wherein step (f) is selecting a test substance that decreases the amount of expression and curl as a hair straightening agent.

11. A method for evaluating or selecting a hair shape regulating agent, comprising the following steps (a) to (g):
(a) introducing a fusion gene to cells, wherein, in the fusion gene, a human CSRP1 gene's regulatory region is linked to and controls expression of a reporter gene, and wherein the cells are capable of expressing an expression product of the reporter gene and are selected from the group consisting of epidermal keratinocytes, human hair follicle tissue cells and hair root area-derived cells;
(b) culturing the cells that contain the fusion gene of step (a) in the presence of a test substance;
(c) measuring the amount of expression of the expression product of the reporter gene in the cells cultured in the presence of the test substance;
(d) selecting, based on the results of step (c), a test substance that increases or decreases the amount of the expression product of the reporter gene, as compared to that in control cells cultured in the absence of the test substance;
(e) culturing a human hair follicle in organ culture in the presence of the test substance that is selected in step (d);
(f) determining the degree of curl of the hair follicle's hair shaft that occurs as a result of the culturing as compared to that of the hair shaft of a control hair follicle that is cultured in the absence of the test substance; and
(g) selecting a test substance from step (f) that both (i) increases or decreases the amount of expression of the protein encoded by the reporter gene in step (d) and (ii) alters the degree of curl of the hair follicle's hair shaft in step (f) as a hair shape regulating agent,
wherein a test substance that increases the amount of expression and curl is selected as a hair curling agent and a substance that decreases the amount of expression and curl of is selected as a hair straightening agent.

12. The method of claim 11 , wherein the test substance increases the amount of expression of the reporter gene.

13. The method of claim 11 , wherein the test substance decreases the amount of expression of the reporter gene.

14. The method of claim 11 , wherein the sequence of the regulatory region of the CSRP1 gene is that of SEQ ID NO: 48.

15. The method of claim 11 , wherein the cells in step (a) are epidermal keratinocytes.

16. The method of claim 11 , wherein the cells in step (a) are human hair follicle tissue cells.

17. The method of claim 11 , wherein the cells in step (a) are hair root area-derived cells.

18. The method according to claim 11 , wherein step (g) is selecting a test substance that increases the amount of the expression product of the reporter gene and curl, as a hair curling agent.

19. The method according to claim 11 , wherein step (g) is selecting a test substance that decreases the amount of the expression product of the reporter gene and curl, as a hair straightening agent.

Assignees

• Taguchi Hiroyuki
• Yoshida Hiroshi
• Fuse Chie
• Arinami Tadao
• Kao Corp

Inventors

• Taguchi Hiroyuki
• Yoshida Hiroshi
• Fuse Chie
• Arinami Tadao

Classifications

• G01N33/68

  involving proteins, peptides or amino acids {(involving lipoproteins G01N33/92)} · CPC title

• C12Q1/6827 Primary

  for detection of mutation or polymorphism · CPC title

• C12Q2600/172

  Haplotypes · CPC title

• C12Q2600/124

  Animal traits, i.e. production traits, including athletic performance or the like · CPC title

• C12Q1/6876

  Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes · CPC title