Global Patent Index - EP 1053315 A4

EP 1053315 A4 20030730 - HUMAN HAIRLESS GENE, PROTEIN AND USES THEREOF

Title (en)

HUMAN HAIRLESS GENE, PROTEIN AND USES THEREOF

Title (de)

MENSCHLICHES 'HAARLOS'-GEN UND -PROTEIN UND IHRE VERWENDUNGEN

Title (fr)

GENE DE LA CALVITIE CHEZ L'HOMME, PROTEINE ET UTILISATIONS ASSOCIEES

Publication

EP 1053315 A4 20030730 (EN)

Application

EP 99905596 A 19990129

Priority

  • US 9902128 W 19990129
  • US 7304398 P 19980129

Abstract (en)

[origin: WO9938965A1] The present invention provides an isolated nucleic acid which encodes a wildtype or mutant human hairless protein. The present invention further provides an isolated wildtype or mutant human hairless protein. In addition, the present invention provides methods of isolating a nucleic acid encoding a wildtype human hairless-related protein in a sample containing nucleic acid, methods for identifying a compound which is capable of enhancing or inhibiting expression of a human hairless protein, methods for identifying a binding coumpound which is capable of forming a complex with a human hairless protein, and methods for identifying an inhibitory compound which is capable of interfering the capacity of a human hairless protein to form a complex with the binding compound. The invention also provides a transgenic animal and pharmaceutical compositions and methods for treating a human hairless condition.

IPC 1-7

C12N 15/11; C07K 14/00; A61K 7/06; A61K 39/395; A01K 67/00

IPC 8 full level

A61K 8/60 (2006.01); A61K 8/64 (2006.01); A61Q 7/00 (2006.01); A61Q 7/02 (2006.01); C07K 14/47 (2006.01); A61K 38/00 (2006.01)

CPC (source: EP)

A61K 8/606 (2013.01); A61K 8/64 (2013.01); A61Q 7/00 (2013.01); A61Q 7/02 (2013.01); C07K 14/47 (2013.01); A01K 2217/05 (2013.01); A01K 2217/075 (2013.01); A61K 38/00 (2013.01); A61K 2800/70 (2013.01); A61K 2800/86 (2013.01)

Citation (search report)

  • [X] CACHON-GONZALEZ M B ET AL: "STRUCTURE AND EXPRESSION OF THE HAIRLESS GENE OF MICE", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF USA, NATIONAL ACADEMY OF SCIENCE. WASHINGTON, US, vol. 91, August 1994 (1994-08-01), pages 7717 - 7721, XP002933874, ISSN: 0027-8424
  • [X] THOMPSON CATHERINE C: "Thyroid hormone-responsive genes in developing cerebellum include a novel synaptotagmin and a hairless homolog.", JOURNAL OF NEUROSCIENCE, vol. 16, no. 24, 1996, pages 7832 - 7840, XP002241687, ISSN: 0270-6474
  • [X] SCHORPP M ET AL: "CHARACTERIZATION OF MOUSE AND HUMAN NUDE GENES", IMMUNOGENETICS, SPRINGER VERLAG, BERLIN, DE, vol. 46, no. 6, November 1997 (1997-11-01), pages 509 - 515, XP000876601, ISSN: 0093-7711
  • [A] SEGRE J A ET AL: "POSITIONAL CLONING OF THE NUDE LOCUS: GENETIC, PHYSICAL AND TRANSCRIPTION MAPS OF THE REGION AND MUTATIONS IN THE MOUSE AND RAT", GENOMICS, ACADEMIC PRESS, SAN DIEGO, US, vol. 28, no. 3, 10 August 1995 (1995-08-10), pages 549 - 559, XP001041492, ISSN: 0888-7543
  • [A] DATABASE EMBL [online] 16 August 1996 (1996-08-16), HILLIER L. ET AL.: "ze85d02.r1 Soares_fetal_heart_NbHH19W Homo sapiens cDNA clone IMAGE:365763 5', mRNA sequence", XP002241691, Database accession no. AA025648
  • [T] FRANK J ET AL: "Exposing the human nude phenotype.", NATURE. ENGLAND 8 APR 1999, vol. 398, no. 6727, 8 April 1999 (1999-04-08), pages 473 - 474, XP002241688, ISSN: 0028-0836
  • [XP] AHMAD W ET AL: "ALOPECIA UNIVERSALIS ASSOCIATED WITH A MUTATION IN THE HUMAN HAIRLESS GENE", SCIENCE, AMERICAN ASSOCIATION FOR THE ADVANCEMENT OF SCIENCE,, US, vol. 279, 30 January 1998 (1998-01-30), pages 720 - 724, XP000971022, ISSN: 0036-8075
  • [XP] CICHON S ET AL: "CLONING, GENOMIC ORGANIZATION, ALTERNATIVE TRANSCRIPTS AND MUTATIONAL ANALYSIS OF THE GENE RESPONSIBLE FOR AUTOSOMAL RECESSIVEUNIVERSAL CONGENITAL ALOPECIA", HUMAN MOLECULAR GENETICS, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 7, no. 11, October 1998 (1998-10-01), pages 1671 - 1679, XP000971023, ISSN: 0964-6906
  • [XP] AHMAD WASIM ET AL: "A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 63, no. 4, October 1998 (1998-10-01), pages 984 - 991, XP002241689, ISSN: 0002-9297
  • [XP] ZLOTOGORSKI ABRAHAM ET AL: "Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene.", HUMAN GENETICS, vol. 103, no. 4, October 1998 (1998-10-01), pages 400 - 404, XP002241690, ISSN: 0340-6717
  • See references of WO 9938965A1

Designated contracting state (EPC)

AT BE CH CY DE DK ES FI FR GB GR IE IT LI LU MC NL PT SE

DOCDB simple family (publication)

WO 9938965 A1 19990805; AU 2572499 A 19990816; CA 2362320 A1 19990805; EP 1053315 A1 20001122; EP 1053315 A4 20030730

DOCDB simple family (application)

US 9902128 W 19990129; AU 2572499 A 19990129; CA 2362320 A 19990129; EP 99905596 A 19990129