Methods of diagnosing alagille syndrome
The present invention provides an isolated polypeptide exhibiting substantially the same amino acid sequence as JAGGED, or an active fragment thereof, provided that the polypeptide does not have the amino acid sequence of SEQ ID NO:5 or SEQ ID NO:6. The invention further provides an isolated nucleic acid molecule containing a nucleotide sequence encoding substantially the same amino acid sequence as JAGGED, or an active fragment thereof, provided that the nucleotide sequence does not encode the amino acid sequence of SEQ ID NO:5 or SEQ ID NO:6. Also provided herein is a method of inhibiting differentiation of hematopoietic progenitor cells by contacting the progenitor cells with an isolated JAGGED polypeptide, or active fragment thereof. The invention additionally provides a method of diagnosing Alagille Syndrome in an individual. The method consists of detecting an Alagille Syndrome disease-associated mutation linked to a JAGGED locus.
- Research Organization:
- Univ. of Washington, Seattle, WA (United States)
- Sponsoring Organization:
- USDOE
- DOE Contract Number:
- AC-03-76SF00098
- Assignee:
- University Of Washington
- Patent Number(s):
- 6,703,198
- Application Number:
- 09/566,047
- OSTI ID:
- 1174755
- Country of Publication:
- United States
- Language:
- English
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