|
|
| PMID |
|
|
| TITLE |
|
| Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1. |
|
| ABSTRACT |
|
|
|
| The complete 24,667 nucleotide sequence spanning the human TYRP1 gene has been determined from the inserts of two overlapping lambda clones. A LINE-1 repeat element is immediately adjacent to and may demarcate the immediate 5' promoter region of the gene. A search for polymorphism within the seven TYRP1 coding exons has been performed by an RNase mismatch detection procedure. Analysis of the TYRP1 gene in 100 Caucasian individuals of varying hair color has found no amino acid sequence variation nor revealed any hemizygous mutant allele in the hypopigmented phenotype of two 9p- syndrome patients. |
|
| DATE PUBLISHED |
|
|
| HISTORY |
|
| PUBSTATUS |
PUBSTATUSDATE |
| pubmed |
1998/01/22 |
| medline |
1998/01/22 00:01 |
| entrez |
1998/01/22 00:00 |
|
| AUTHORS |
|
| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Box NF |
|
Box |
N F |
NF |
|
Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Australia. |
| Wyeth JR |
|
Wyeth |
J R |
JR |
|
|
| Mayne CJ |
|
Mayne |
C J |
CJ |
|
|
| O'Gorman LE |
|
O'Gorman |
L E |
LE |
|
|
| Martin NG |
|
Martin |
N G |
NG |
|
|
| Sturm RA |
|
Sturm |
R A |
RA |
|
|
|
| INVESTIGATORS |
|
|
| JOURNAL |
|
| VOLUME: 9 |
| ISSUE: 1 |
| TITLE: Mammalian genome : official journal of the International Mammalian Genome Society |
| ISOABBREVIATION: Mamm. Genome |
| YEAR: 1998 |
| MONTH: Jan |
| DAY: |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Print |
| ISSN: 0938-8990 |
| ISSNTYPE: Print |
|
| MEDLINE JOURNAL |
|
| MEDLINETA: Mamm Genome |
| COUNTRY: United States |
| ISSNLINKING: 0938-8990 |
| NLMUNIQUEID: 9100916 |
|
| PUBLICATION TYPE |
|
| PUBLICATIONTYPE TEXT |
| Journal Article |
| Research Support, Non-U.S. Gov't |
|
| COMMENTS AND CORRECTIONS |
|
|
| GRANTS |
|
|
| GENERAL NOTE |
|
|
| KEYWORDS |
|
|
| MESH HEADINGS |
|
| DESCRIPTORNAME |
QUALIFIERNAME |
| Base Sequence |
|
| DNA, Complementary |
|
| Humans |
|
| Membrane Glycoproteins |
|
| Molecular Sequence Data |
|
| Oxidoreductases |
|
| Polymorphism, Genetic |
|
| Proteins |
genetics |
|
| SUPPLEMENTARY MESH |
|
|
| GENE SYMBOLS |
|
|
| CHEMICALS |
|
| REGISTRYNUMBER |
NAMEOFSUBSTANCE |
| 0 |
DNA, Complementary |
| 0 |
Membrane Glycoproteins |
| 0 |
Proteins |
| EC 1.- |
Oxidoreductases |
| EC 1.14.18.- |
TYRP1 protein, human |
| EC 1.14.18.- |
tyrosinase-related protein-1 |
|
| OTHER ID's |
|
|
|
