Organization and sequence of the human P gene and identification of a new family of transport proteins

Seung Taek Lee; Robert D. Nicholls; Michelle T.C. Jong; Kazuyoshi Fukai; Richard A. Spritz

doi:10.1016/0888-7543(95)80220-G

Organization and sequence of the human P gene and identification of a new family of transport proteins

Seung Taek Lee, Robert D. Nicholls, Michelle T.C. Jong, Kazuyoshi Fukai, Richard A. Spritz

Research output: Contribution to journal › Article › peer-review

159 Citations (Scopus)

Abstract

We have determined the structure, nucleotide sequence, and polymorphisms of the human P gene. Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice. We find that the human P gene is quite large, consisting of 25 exons spanning 250 to 600 kb in chromosome segment 15q11-q13. The P polypeptide appears to define a novel family of small molecule transporters and may be involved in transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. These results provide the basis for analyses of patients with OCA2 and may point toward eventual pharmacologic treatment of this and related disorders of pigmentation.

Original language	English
Pages (from-to)	354-363
Number of pages	10
Journal	Genomics
Volume	26
Issue number	2
DOIs	https://doi.org/10.1016/0888-7543(95)80220-G
Publication status	Published - 1995 Mar 20

Bibliographical note

Funding Information:
We thank D. Ledbetter for YACs 93C9 and 149A9, Dr. O. Smithies for the human genomic recombinant hCharon 28 library, and Dr. D. Bennett for melan-a cells. This work was supported by Postdoctoral Grant 997 (to S.-T.L.) and Clinical Research Grant 6-408 (to R.A.S.) from the March of Dimes Birth Defects Foundation and National Institutes of Health Grants AR39892 (to R.A.S.) and AR39750 (SDRC-P and FS7, to R.D.N.). R.D.N. is a Pew Scholar in the Biomedical Sciences. This is Paper 3414 from the Laboratory of Genetics, University of Wisconsin.

All Science Journal Classification (ASJC) codes

Genetics

Access to Document

10.1016/0888-7543(95)80220-G

Cite this

@article{7f8196465cc74e74bd2c4d8ed86b6bfa,

title = "Organization and sequence of the human P gene and identification of a new family of transport proteins",

abstract = "We have determined the structure, nucleotide sequence, and polymorphisms of the human P gene. Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice. We find that the human P gene is quite large, consisting of 25 exons spanning 250 to 600 kb in chromosome segment 15q11-q13. The P polypeptide appears to define a novel family of small molecule transporters and may be involved in transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. These results provide the basis for analyses of patients with OCA2 and may point toward eventual pharmacologic treatment of this and related disorders of pigmentation.",

author = "Lee, {Seung Taek} and Nicholls, {Robert D.} and Jong, {Michelle T.C.} and Kazuyoshi Fukai and Spritz, {Richard A.}",

note = "Funding Information: We thank D. Ledbetter for YACs 93C9 and 149A9, Dr. O. Smithies for the human genomic recombinant hCharon 28 library, and Dr. D. Bennett for melan-a cells. This work was supported by Postdoctoral Grant 997 (to S.-T.L.) and Clinical Research Grant 6-408 (to R.A.S.) from the March of Dimes Birth Defects Foundation and National Institutes of Health Grants AR39892 (to R.A.S.) and AR39750 (SDRC-P and FS7, to R.D.N.). R.D.N. is a Pew Scholar in the Biomedical Sciences. This is Paper 3414 from the Laboratory of Genetics, University of Wisconsin.",

year = "1995",

month = mar,

day = "20",

doi = "10.1016/0888-7543(95)80220-G",

language = "English",

volume = "26",

pages = "354--363",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

number = "2",

}

TY - JOUR

T1 - Organization and sequence of the human P gene and identification of a new family of transport proteins

AU - Lee, Seung Taek

AU - Nicholls, Robert D.

AU - Jong, Michelle T.C.

AU - Fukai, Kazuyoshi

AU - Spritz, Richard A.

N1 - Funding Information: We thank D. Ledbetter for YACs 93C9 and 149A9, Dr. O. Smithies for the human genomic recombinant hCharon 28 library, and Dr. D. Bennett for melan-a cells. This work was supported by Postdoctoral Grant 997 (to S.-T.L.) and Clinical Research Grant 6-408 (to R.A.S.) from the March of Dimes Birth Defects Foundation and National Institutes of Health Grants AR39892 (to R.A.S.) and AR39750 (SDRC-P and FS7, to R.D.N.). R.D.N. is a Pew Scholar in the Biomedical Sciences. This is Paper 3414 from the Laboratory of Genetics, University of Wisconsin.

PY - 1995/3/20

Y1 - 1995/3/20

N2 - We have determined the structure, nucleotide sequence, and polymorphisms of the human P gene. Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice. We find that the human P gene is quite large, consisting of 25 exons spanning 250 to 600 kb in chromosome segment 15q11-q13. The P polypeptide appears to define a novel family of small molecule transporters and may be involved in transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. These results provide the basis for analyses of patients with OCA2 and may point toward eventual pharmacologic treatment of this and related disorders of pigmentation.

AB - We have determined the structure, nucleotide sequence, and polymorphisms of the human P gene. Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice. We find that the human P gene is quite large, consisting of 25 exons spanning 250 to 600 kb in chromosome segment 15q11-q13. The P polypeptide appears to define a novel family of small molecule transporters and may be involved in transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. These results provide the basis for analyses of patients with OCA2 and may point toward eventual pharmacologic treatment of this and related disorders of pigmentation.

UR - http://www.scopus.com/inward/record.url?scp=0028942723&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028942723&partnerID=8YFLogxK

U2 - 10.1016/0888-7543(95)80220-G

DO - 10.1016/0888-7543(95)80220-G

M3 - Article

C2 - 7601462

AN - SCOPUS:0028942723

SN - 0888-7543

VL - 26

SP - 354

EP - 363

JO - Genomics

JF - Genomics

IS - 2

ER -

Organization and sequence of the human P gene and identification of a new family of transport proteins

Abstract

Bibliographical note

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this