Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

@article{Rundshagen2004MutationsIT,
  title={Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4},
  author={Uta Rundshagen and Christine Z{\"u}hlke and Sven Opitz and Eberhard Schwinger and Barbara K{\"a}smann-Kellner},
  journal={Human Mutation},
  year={2004},
  volume={23}
}
Oculocutaneous albinism (OCA) is caused by a deficiency of melanin synthesis and characterized by generalized hypopigmentation of skin, hair, and eyes. Due to the hypopigmentation of the retinal pigment epithelium, OCA is usually associated with congenital visual impairment, in addition to an increased risk of skin cancer. OCA is a genetically heterogeneous disease with distinct types resulting from mutations in different genes involved in the pathway which results in pigmentation. OCA1 is… 
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TLDR
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Albinism in Europe
TLDR
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Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes.
TLDR
The phenotypes of OCA4 were as various as the other types of O CA and probably depended on the mutation sites in the SLC45A2 gene.
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References

SHOWING 1-10 OF 16 REFERENCES
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
TLDR
The mouse underwhite gene and its human orthologue are identified, which underlies a new form of human OCA, termed "OCA4," and the encoded protein, MATP (for "membrane-associated transporter protein") is predicted to span the membrane 12 times and likely functions as a transporter.
Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".
Most types of human oculocutaneous albinism (OCA) result from mutations in the gene for tyrosinase (OCA1) or the P protein (OCA2), although other types of OCA have been described but have not been
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
TLDR
It is shown here that the human complementary DNA DN10, linked to thep locus in mice3–5, identifies the human homologue (P) of the mouse pgene, and appears to encode an integral membrane transporter protein.
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.
TLDR
In vitro expression of the Amish type IB allele in nonpigmented HeLa cells demonstrates that the Pro----Leu substitution at codon 406 greatly reduces but does not abolish tyrosinase enzymatic activity, a finding consistent with the clinical phenotype.
Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka
TLDR
The first successful positional cloning of a medaka gene (AIM1): one that encodes a transporter that mediates melanin synthesis, which is predicted to consist of 12 transmembrane domains and is 55% identical to a human EST of unknown function isolated from melanocytes and melanoma cells.
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene
TLDR
The deletion allele of the P gene associated with tyrosinase-positive oculocutaneous albinism (OCA2) in African Americans and Africans was investigated and was most common in Zimbabwe and Cameroon.
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.
TLDR
This is the first study systematically screening all 12 exons of parkin by real-time, kinetic quantification and clearly shows that mutational analysis of the parkin gene should include gene dosage studies.
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
TLDR
Future studies will focus both on the identification of additional genes involved with these human diseases and on the understanding of their biologic interactions, which will lend greater insight into the complex genetic and environmental influences that lead to phenotypic expression of a trait.
A new allelic series for the underwhite gene on mouse chromosome 15.
TLDR
The visible phenotypes and dominance hierarchy of these alleles, all of which are defined by a reduction of pigmentation in both eye and coat color, are reported here.
Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.
TLDR
Southern blot analysis of DNA derived from newborn mice carrying lethal albino deletion mutations revealed that Pmel34 maps near or at the c-albino locus, the position of the structural gene for tyrosinase.
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