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1.
Genet Mol Res ; 12(1): 731-7, 2013 Mar 13.
Article in English | MEDLINE | ID: mdl-23546956

ABSTRACT

Phospholipid transfer protein (PLTP) regulates high-density lipoprotein metabolism. The gene encoding PLTP is located on bovine chromosome 13. The objective of this study was to identify single nucleotide polymorphisms (SNPs) in the Hanwoo (Bos taurus coreanae) PLTP gene to detect novel mutations affecting economically important traits. Five SNPs were identified in the coding region (C7368T, G7453A, C9888T, and C9905T) and intron (A1750G). G7453A changes amino acid 362 of PLTP from alanine to threonine, and C9888T changes amino acid 491 of PLTP from proline to serine. Statistical analyses revealed that the G7453A and C9888T polymorphisms in the PLTP gene were significantly associated with marbling score (P < 0.05). The relationship between haplotype and economic traits was analyzed and found to be significantly associated with marbling score (P < 0.05). The results suggest that PLTP polymorphisms might be an important genetic influence on economic traits in Hanwoo.


Subject(s)
Cattle/genetics , Meat/standards , Phospholipid Transfer Proteins/genetics , Polymorphism, Single Nucleotide , Amino Acid Substitution , Animals , Exons/genetics , Gene Frequency , Genotype , Haplotypes , Introns/genetics , Republic of Korea
2.
Am J Hum Genet ; 62(3): 593-8, 1998 Mar.
Article in English | MEDLINE | ID: mdl-9497254

ABSTRACT

Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles-melanosomes, platelet-dense granules, and lysosomes. As reported elsewhere, we mapped the human HPS gene to chromosome segment 10q23, positionally cloned the gene, and identified three pathologic mutations of the gene, in patients from Puerto Rico, Japan, and Europe. Here, we describe mutation analysis of 44 unrelated Puerto Rican and 24 unrelated non-Puerto Rican HPS patients. A 16-bp frameshift duplication, the result of an apparent founder effect, is nearly ubiquitous among Puerto Rican patients. A frameshift at codon 322 may be the most frequent HPS mutation in Europeans. We also describe six novel HPS mutations: a 5' splice-junction mutation of IVS5, three frameshifts, a nonsense mutation, and a one-codon in-frame deletion. These mutations define an apparent frameshift hot spot at codons 321-322. Overall, however, we detected mutations in the HPS gene in only about half of non-Puerto Rican patients, and we present evidence that suggests locus heterogeneity for HPS.


Subject(s)
Albinism, Oculocutaneous/genetics , Frameshift Mutation , Genetic Heterogeneity , Chromosome Mapping , Chromosomes, Human, Pair 10 , Consanguinity , Ethnicity/genetics , Genetic Linkage , Homozygote , Humans , Puerto Rico/ethnology , RNA Splicing
3.
Nat Genet ; 14(3): 300-6, 1996 Nov.
Article in English | MEDLINE | ID: mdl-8896559

ABSTRACT

Hermansky-Pudlak syndrome (HPS) is an often-fatal autosomal recessive disease in which albinism, bleeding, and lysosomal storage result from defects of diverse cytoplasmic organelles: melanosomes, platelet dense bodies, and lysosomes. HPS is the most common single-gene disorder in Puerto Rico, with an incidence of 1 in 1,800. We have identified the HPS gene by positional cloning, and found homozygous frameshifts in this gene in Puerto Rican, Swiss, Irish and Japanese HPS patients. The HPS polypeptide is a novel transmembrane protein that is likely to be a component of multiple cytoplasmic organelles and that is apparently crucial for their normal development and function. The different clinical phenotypes associated with the different HPS frameshifts we observed suggests that differentially truncated HPS polypeptides may have somewhat different consequences for subcellular function.


Subject(s)
Albinism, Oculocutaneous/genetics , Cytoplasm/genetics , Lysosomal Storage Diseases/genetics , Membrane Proteins/genetics , Mutation , Albinism, Oculocutaneous/complications , Albinism, Oculocutaneous/epidemiology , Amino Acid Sequence , Base Sequence , Chromosome Mapping , Cloning, Molecular , Cytoplasm/pathology , Gene Expression Regulation , Genetic Markers , Humans , Ireland , Japan , Lysosomal Storage Diseases/complications , Lysosomal Storage Diseases/epidemiology , Molecular Sequence Data , Phenotype , Puerto Rico , Switzerland , Syndrome
4.
Hum Mol Genet ; 4(9): 1665-9, 1995 Sep.
Article in English | MEDLINE | ID: mdl-8541858

ABSTRACT

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by the triad of tyrosinase-positive oculocutaneous albinism, bleeding diathesis due to storage-pool deficiency of platelets, and a lysosomal ceroid storage disease. The disorder is particularly frequent in Puerto Rico and in an isolated village in the Swiss Alps. We have used a linkage disequilibrium mapping approach to localize the HPS gene in both of these groups to a 0.6 centiMorgan interval in chromosome segment 10q23.1-q23.3. These results indicate that the Puerto Rican and Swiss forms of HPS are either allelic or that they result from mutations in very closely linked genes in this region. This region of distal chromosome 10q is syntenic to the region of mouse chromosome 19 that includes 'pale ear' (ep) and 'ruby-eye' (ru), which must be considered as potential murine homologues to human HPS.


Subject(s)
Albinism, Oculocutaneous/genetics , Chromosomes, Human, Pair 10 , Hemorrhagic Disorders/genetics , Linkage Disequilibrium , Lysosomal Storage Diseases/metabolism , Animals , Female , Genotype , Humans , Male , Mice , Pedigree , Puerto Rico , Switzerland , Syndrome
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