Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Hair Color”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 595 records · Page 33Linked to original sources
PubMed2006

Does a pleiotropic gene explain deafness and blue irises in white cats?

The prevalence of deafness is high in cat populations in which the dominant white gene is segregating. The objective of this study was to investigate whether there is a gene that is responsible for deafness as well as for blue eyes and to establish a plausible mode of inheritance. For this purpose, data from an experimental colony with deaf cats were analyzed. The hearing status was determined by acoustically evoked brain stem responses (BAER). Complex segregation analyses were conducted to find out the most probable mode of inheritance using maximum likelihood procedures. The prevalence of deafness and partial hearing in the experimental colony was 67% and 29%, respectively. The results of the bivariate segregation analysis support the hypothesis of a pleiotropic major gene segregating for deafness and blue iris colour. The high heritability coefficients for both traits, 0.55 and 0.75 respectively, indicate that beside the major gene there is an important influence of polygenic effects.

Acoustic Stimulation↗
PubMed1994

The mottled gene is the mouse homologue of the Menkes disease gene.

The mottled mouse has been proposed as an animal model for Menkes disease, an X-linked disorder of copper transport. The recent isolation of a copper-transporting ATPase gene responsible for Menkes disease has allowed us to test this hypothesis. Here we report the isolation and sequence of the mouse homologue of this gene. We show that two mottled (Mo) alleles, dappled (Modp) and blotchy (Moblo), have abnormalities in the murine mRNA and that Modp has a partial gene deletion. These studies prove that the mottled mouse is the murine model for Menkes disease, providing the basis for future biochemical and therapeutic studies.

Adenosine Triphosphatases↗
PubMed2006

A design for cancer case-control studies using only incident cases: experience with the GEM study of melanoma.

BACKGROUND: The population-based case-control study is not suited to the evaluation of rare genetic (or environmental) factors. The use of a novel case-control design in which cases have second primaries and controls are cancer survivors has been proposed for this purpose. METHODS: We report results from an international study of melanoma that involved population-based ascertainment of incident cases of second or subsequent primary melanoma as the 'case' group and incident cases of first primary melanoma as the 'control' group. We evaluate the validity of the study design by comparing the results obtained for phenotypic factors that have been shown consistently to be associated with melanoma in previous conventional studies with the results from a conventional case-control study conducted in Connecticut and from literature reviews. RESULTS: All but one of the known risk factors for melanoma were shown to be significantly associated with melanoma in our study, though the individual odds ratios appear to be somewhat attenuated relative to the magnitudes typically observed in the literature. CONCLUSIONS: Patients with a second or subsequent primary cancer of a single type represent a potentially valuable and under-utilized resource for the study of cancer aetiology.

Adult↗
PubMedDate not supplied

A new allelic series for the underwhite gene on mouse chromosome 15.

A new allelic series at the underwhite gene is described. Three of the alleles in the series--uw, uwd, and Uwdbr--arose as spontaneous mutations on different genetic backgrounds at The Jackson Laboratory. We report here 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. Electron microscopic analysis of retinal epithelium suggests that the primary defect is in the melanosome. The degree of severity of melanosome anomalies in the retina correlates with the degree of hypopigmentation in the coat. The perturbed gene and its gene product are unknown. We show that the uw locus is genetically distinct from Myo10, a suggested candidate gene for this mutation.

Alleles↗
PubMed1998

Phenotypic markers, sunlight-related factors and sunscreen use in patients with cutaneous melanoma: an Austrian case-control study.

Sunscreens have been advocated to prevent burning in the hope that this will decrease the chance of developing melanoma. In a single-centre case-control study in Styria, Austria, we examined the risk of cutaneous malignant melanoma in relation to phenotypic markers, sunlight-related factors and sunscreen use. In total, 193 melanoma patients and 319 control subjects answered a comprehensive questionnaire regarding phenotypic markers, a variety of sunlight-related factors and sunscreen use. Risk factors for melanoma were examined through the use of unconditional logistic regression analysis, controlling for age and sex. Screening for confounding factors was done by forward and backward elimination of non-significant variables (P < 0.05). The resulting set of factors were investigated further for effect modification by introducing interactions into the model. The factor most significantly associated with increased melanoma risk was the use of sunscreens. Subjects who often used sunscreens had an increased odds ratio (OR) of 3.47 (95% confidence interval [CI]1.81-6.64) compared with subjects who never used sunscreens (P = 0.001), after adjustment for sex, age and other significant sunlight-related factors. Skin colour and higher numbers of sunbaths were significant protective factors. Subjects with medium skin colour had an adjusted OR of 0.63 (95% CI 0.41-0.99) compared with subjects with light skin colour (P = 0.0022). Subjects who took more than 30 sunbaths per year and subjects who took 20-30 sunbaths per year had, in the absence of sunburn(s), a decreased OR of 0.09 (95% CI 0.02-0.39) and 0.28 (95% CI 0.13-0.64), respectively, compared with subjects who took less than 20 sunbaths per year (P = 0.0002). However, sunbaths had no protective value when they were associated with sunburns. Although we cannot exclude the presence of an unknown confounding factor, our results suggest that the use of sunscreens does not help prevent melanoma.

Adolescent↗
PubMed1995

Perception of age in adult Caucasian male faces: computer graphic manipulation of shape and colour information.

This study investigated visual cues to age by using facial composites which blend shape and colour information from multiple faces. Baseline measurements showed that perceived age of adult male faces is on average an accurate index of their chronological age over the age range 20-60 years. Composite images were made from multiple images of different faces by averaging face shape and then blending red, green and blue intensity (RGB colour) across comparable pixels. The perceived age of these composite or blended images depended on the age bracket of the component faces. Blended faces were, however, rated younger than their component faces, a trend that became more marked with increased component age. The techniques used provide an empirical definition of facial changes with age that are biologically consistent across a sample population. The perceived age of a blend of old faces was increased by exaggerating the RGB colour differences of each pixel relative to a blend of young faces. This effect on perceived age was not attributable to enhanced contrast or colour saturation. Age-related visual cues defined from the differences between blends of young and old faces were applied to individual faces. These transformations increased perceived age.

Adult↗
PubMed1996

Quantitative analysis of striped coat-color patterns in Large White-->Duroc chimeric pigs with special reference to the genetic control mechanisms of the dominant black-eyed white phenotype.

Coat colors of four chimeric pigs produced by the microinjection of dissociated blastomeres of (Landrace x Large White) blastocysts to the blastocyst cavity of Duroc x Duroc) blastocysts (Kashiwazaki et al., 1992) exhibited characteristic horizontal stripe-patterns. We carried out quantitative analysis of those patterns in order to derive information concerning the genetic regulatory mechanisms of the dominant black-eyed white phenotypes in the pig. In the four chimeras, the theoretical mean widths of the single-clone stripe calculated from the estimated widths of minimal recognizable stripe (MRS) (Tachi, 1988) were 2.1 +/- 0.1, 2.23 +/- 0.15, 1.89 +/- 0.06, and 1.93 +/- 0.28 cm respectively. The estimated number of single-clone stripes in the thoracico-lumbar region of those animals were 42.3, 40.7, 46.3, 44.2, and about twice the mean number of vertebrae in the same region (Duroc, 20 or 21; Large White 21 or 22). Furthermore, the mean length of thoracico-lumbar vertebrae in two of the chimeric pigs, as measured on X-ray radiographs, was approximately twice the mean single-clone stripe width. It was concluded that the stripe-patterns of the chimeric pigs probably represented the dermatome patterns of epidermis; and in the pig, a single somite was likely to be derived from the clones of two primordial cells, as originally proposed by Gearhart & Mintz (1972) in the mouse. It was suggested, furthermore, that in the Large White-->Duroc chimeric pigs, melanocytes that migrated into the region of skin formed by a Large White dermatome could not survive, thus creating a clearly demarcated white stripe. Possible involvement of KL or c-kit in the dominant black-eyed white phenotype of the pig is discussed.

Animals↗
PubMed1978

[Study of autonomy of action of white gene in allophenic mice].

An allophenic mouse and three allophenic embryos were obtained by aggregating 8-cell-embryos of Miwh/Miwh and +/+ genotypes. The coat colour and pigment epithelium of the eyes indicated chimerism. Melanoblasts of genotype Miwh/Miwh were lost during the embryonic development. Variations of coat colour in a chimeric mouse were due to the interaction of normal melanocytes with the surrounding dermal cells which consisted of clones of Miwh/Miwh or +/+ genotypes and a mixture of both. Certain differences between the right (chimeric) and left (normal) eye development and a greater rate of normal clones growth were observed in the allophenic mouse. Pigmentation of the eyes of two allophenic embryos was less than normal. This indicated the autonomy of gene white action in mice.

Animals↗
PubMed2007

Notch1 and Notch2 receptors influence progressive hair graying in a dose-dependent manner.

The Notch signaling pathway is involved in diverse biological processes such as cell fate decisions or stem cell maintenance. In this study, we assessed the role of this pathway for melanocyte development and hair pigmentation using RBP-Jkappa, Notch1, and Notch2 conditional knockout mice. Disruption of the Notch pathway by inactivating RBP-Jkappa in the melanocyte lineage using Tyr::Cre mice led to a severe coat color dilution. Similarly, hair graying was observed when Notch1 and/or Notch2 receptors were ablated in melanocytes. This phenotype was proportional to the number of floxed Notch alleles, with the most pronounced effect seen in Tyr::Cre/degrees; Notch1(flox/flox); Notch2(flox/flox) mice. Deletion of Notch1 and/or Notch2 in melanoblasts did not induce a congenital defect. The number of Dct-expressing cells at embryonic stages was not affected, but melanocytes located within the hair matrix progressively disappeared during the first regeneration of the hair follicle. In contrast, non-follicular melanocytes and pigmentation in the dermis and in the choroid were not affected. We suggest that both Notch1 and Notch2 receptors contribute to the maintenance of melanoblasts and melanocyte stem cells, and are essential for proper hair pigmentation.

Alleles↗
PubMed2005

Accumulation of explosives in hair.

The sorption of explosives (TNT, RDX, PETN, TATP, EGDN) to hair during exposure to their vapors is examined. Three colors of hair were simultaneously exposed to explosive vapor. Following exposure of hair, the sorbed explosive was removed by extraction with acetonitrile and quantified. Results show that sorption of explosives, via vapor diffusion, to black hair is significantly greater than to blond, brown or bleached hair. Furthermore, the rate of sorption is directly related to the vapor density of the explosive: EGDN > TATP >>>TNT >> PETN > RDX. In some cases, the explosive-containing hair was subject to repeated washings with sodium dodecylsulfate or simply left out in an open area to determine the persistence of the explosive contamination. While explosive is removed from hair with time or washing, some persists. These results indicate that hair can be a useful indicator of explosive exposure/handling.

Ethylene Glycols↗
PubMed2001

Mouse cloning with nucleus donor cells of different age and type.

We have tested different cell types as sources for nucleus donors to determine differences in cloning efficiency. When donor nuclei were isolated from cumulus cells and injected into recipient oocytes from adult hybrid mice (B6D2F1 and B6C3F1), the success rate of cloning was 1.5-1.9%. When cumulus cell donor nuclei were isolated from adult inbred mice (C57BL/6, C3H/He, DBA/2, 129/SvJ, and 129/SvEvTac), reconstructed oocytes did not develop to full term or resulted in a very low success rate (0-0.3%) with the exception of 129 strains which yielded 0.7-1.4% live young. When fetal (13.5-15.5 dpc), ovarian, and testicular cells were used as nucleus donors, 2.2 and 1.0% of reconstructed oocytes developed into live offspring, respectively. When various types of adult somatic cells (fibroblasts, thymocytes, spleen cells, and macrophages) were used, oocytes receiving thymocyte nuclei never developed beyond implantation, whereas those receiving the nuclei of other cell types did. These results indicate that adult somatic cells are not necessarily inferior to younger cells (fetal and ES cells) in the context of mouse cloning. Although fetal cells are believed to have less genetic damage than adult somatic cells, the success rate of cloning using any cell types were very low. This may largely be due to technical problems and/or problems of genomic reprogramming by oocytes rather than the accumulation of mutational damage in adult somatic cells.

Aging↗
PubMed1976

Retinogeniculate projections in albino and ocularly hypopigmented rats.

The retinogeniculate fiber projections were studied by degeneration methods in several strains of rats with pigmentation in their eyes and pelts ranging from the intensely pigmented self phenotype to the albino. The ipsilateral retinogeniculate input in the self, Irish, and hooded rats, and rats with "bicolor fundus" is located medially within the dorsal alteral geniculate nucleus (LGd) and is seen as a single lamina of moderately dense degeneration.

Albinism↗
PubMed1984

Abnormal central visual pathways in the brain of an albino green monkey (Cercopithecus aethiops).

The visual pathways of an albino green monkey have been studied electrophysiologically and by autoradiographic methods. The monkey had a white coat and pink eyes; it had a strabismus and a nystagmus. When comparisons were made with normal macaque and green monkeys, several abnormalities could be defined. In the retina there was no foveal pit. A whole mount preparation showed a central area of high ganglion cell density in which the ganglion cells were significantly larger than the most central ganglion cells of a normal monkey. More peripheral retinal areas showed an apparently normal distribution of ganglion cell sizes and packing densities. Within the optic tract the number of uncrossed retinofugal fibers was less than normal, the part of the tract that represents central vision showing almost no uncrossed component. The uncrossed input to the lateral geniculate nucleus and to the superior colliculus was similarly reduced. Regions normally receiving ipsilateral afferents from the central retina were innervated exclusively by crossed afferents. The pathways to the magnocellular geniculate layers showed a more extensive abnormality than did the pathways to the parvicellular layers. Not only were the afferents to the geniculate layers abnormal, but the laminar pattern in the nucleus was also clear than normal in some parts of the nucleus, and there were a number of abnormal laminar fusions. Within the visual cortex it was possible to demonstrate a normal mapping of the contralateral visual field through the contralateral nasal retina and through the peripheral parts of the ipsilateral temporal retina. The central parts of the temporal retina mapped abnormally in the contralateral visual cortex, so that there was a monocular map of the central parts of the visual field forming as a mirror reversal of the normal map. The normal map of the contralateral hemifield formed columns that alternated with the abnormal map of the ipsilateral hemifield. The peripheral parts of the visual field were represented as ocular dominance columns, demonstrable electrophysiologically and also by the transneuronal transport of 3H-proline.

Animals↗
PubMed2005

P gene mutations associated with oculocutaneous albinism type II (OCA2).

Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink-eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domains and is associated with melanosomal membranes. The specific function of the P protein is currently unknown but is thought to be involved in tyrosinase processing and transport. We report nine novel mutations in the P gene associated with OCA2. These include two missense mutations, c.1938A>C (p.Ile646Val) and c.1556T>C (p.Val519Ala); one nonsense mutation c.612G>A (p.Trp204X); five frameshift mutations: c.2372_2373delTC, c.1555delG, c.1938_1939insC, c.2050delT, and c.1045_1046delAT; and a splice site mutation c.1951+1G>A. We also report 12 novel polymorphisms including one amino acid substitution, c.2365_2366GC>CA (p.Ala789Glu). At present, there is no functional assay to determine if a mutation is truly pathogenic. The presence of numerous polymorphisms of the P gene in the coding region, several of which result in amino acid substitutions, makes molecular diagnosis problematic. To ensure accurate molecular diagnosis, further mutational analysis will be necessary to produce a comprehensive list of mutations associated with OCA2. This information will also help define the critical functional domains of the P protein. Mutations associated with OCA2 can be found in the Albinism Database (http://albinismdb.med.umn.edu).

Albinism, Oculocutaneous↗