Biomedical subjects

J Neitz

Publications and source records attributed to J Neitz.

At least 37 records · Page 2Linked to original sources

PubMed1998

Expression of L cone pigment gene subtypes in females.

Spectral subtypes of L pigment are produced by a serine/alanine dimorphism at amino acid position 180. X-chromosomes that carry genes for the different subtypes occur with about equal frequency in normal men. Females have two X-chromosomes: thus, about 50% of women will inherit genes for both L pigment subtypes, although on different X-chromosomes. In these women, X-inactivation is expected to produce about equal numbers of LS180 and LA180 cones in addition to middle (M) and short (S) wavelength-sensitive cones to total four spectrally distinct cone types. Consistent with this expectation we found nearly equal expression of genes for two spectrally distinct subtypes of L pigment in five of nine female retinas examined.

Amino Acid Sequence↗

PubMed1998

Recent evolution of uniform trichromacy in a New World monkey.

Until recently, New World primates were found to have a single M/L photopigment gene on the X-chromosome. This arrangement limits males to dichromatic, or monochromatic color vision. Only females who were heterozygous for the M/L gene were trichromatic. Recently, an exception has been discovered. Male howler monkeys appear to have more than one M/L pigment gene, and both genders are uniformly trichromatic. We characterized promoter regions corresponding to two M/L pigment genes in howlers. Comparison of DNA sequences with those of humans and three species of New World primate suggest a recent and independent acquisition of a second M/L gene locus in the howler.

Animals↗

PubMed1996

Visual pigment gene structure and the severity of color vision defects.

Rearrangements of the visual pigment genes are associated with defective color vision and with differences between types of red-green color blindness. Among individuals within the most common category of defective color vision, deuteranomaly, there is a large variation in the severity of color vision loss. An examination of specific photopigment gene sites responsible for tuning photopigment absorption spectra revealed differences that predict these variations in the color defect. The results indicate that the severity of the defect in deuteranomalous color vision depends on the degree of similarity among the residual photopigments that serve vision in the color-anomalous eye.

Blotting, Southern↗

PubMed1996

Trichromatic colour vision in New World monkeys.

Trichromatic colour vision depends on the presence of three types of cone photopigment. Trichromacy is the norm for all Old World monkeys, apes and humans, but in several genera of New World monkeys, colour vision is strikingly polymorphic. The difference in colour vision between these New and Old World primates results form differing arrangements of the pigment genes on the X chromosome. In Old World primates the three photopigments required for routine trichromatic colour vision are encoded by two or more X-chromosome pigment genes and an autosomal pigment gene. New World monkeys typically have only one X-chromosome pigment gene; multiple alleles allow different types of dichromatic colour vision and, in female heterozygous at this locus, variant forms of trichromatic colour vision. Here we report that multiple X-chromosome pigment genes and trichromatic colour vision are the norm for one genus of platyrrhine monkey, the howler monkey, Alouatta.

Alouatta↗

PubMed1996

Mutations in S-cone pigment genes and the absence of colour vision in two species of nocturnal primate.

Most primates have short-wavelength sensitive (S) cones and one or more types of cone maximally sensitive in the middle to long wavelengths (M/L cones). These multiple cone types provide the basis for colour vision. Earlier experiments established that two species of noctural primate, the owl monkey (Aotus trivirgatus) and the bushbaby (Otolemur crassicaudatus), lack a viable population of S cones. Because the retinas of these species have only a single type of M/L cone, they lack colour vision. Both of these species have an S-cone pigment gene that is highly homologous to the human S-cone pigment gene. Examination of the nucleotide sequences of the S-cone pigment genes reveals that each species has deleterious mutational changes: in comparison to the sequence for the corresponding region of the human gene, exon 4 of the bushbaby S-cone pigment gene has a two nucleotide deletion and a single nucleotide insertion that produces a frame shift and results in the introduction of a stop codon. Exon 1 of the owl monkey S-cone pigment gene likewise contains deletions and insertions that produce a stop codon. The absence of colour vision in both of these nocturnal primates can thus be traced to defects in their S-cone pigment genes.

Amino Acid Sequence↗

PubMed1996

Mapping striate and extrastriate visual areas in human cerebral cortex.

Functional magnetic resonance imaging (fMRI) was used to identify and map the representation of the visual field in seven areas of human cerebral cortex and to identify at least two additional visually responsive regions. The cortical locations of neurons responding to stimulation along the vertical or horizontal visual field meridia were charted on three-dimensional models of the cortex and on unfolded maps of the cortical surface. These maps were used to identify the borders among areas that would be topographically homologous to areas V1, V2, V3, VP, and parts of V3A and V4 of the macaque monkey. Visually responsive areas homologous to the middle temporal/medial superior temporal area complex and unidentified parietal visual areas were also observed. The topography of the visual areas identified thus far is consistent with the organization in macaque monkeys. However, these and other findings suggest that human and simian cortical organization may begin to differ in extrastriate cortex at, or beyond, V3A and V4.

Adult↗

PubMed1996

Electroretinogram flicker photometry and its applications.

The electroretinogram (ERG) has been a traditional tool for the measurement and the analysis of spectral sensitivity. With the appropriate choices of stimulus and measurement conditions, the ERG permits a noninvasive examination of photopigment complement and provides the means for studying the combination of spectral signals at various locations throughout the retina. There are a number of practical problems associated with making spectral measurements with the ERG. One approach to minimizing these problems is to exploit the advantages of a flicker-photometric procedure. We summarize a method used to conduct ERG flicker photometry and illustrate a range of problems to which this technique can be successfully applied.

Electroretinography↗

PubMed1995

Numbers and ratios of visual pigment genes for normal red-green color vision.

Red-green color vision is based on middle-wavelength- and long-wavelength-sensitive visual pigments encoded by an array of genes on the X chromosome. The numbers and ratios of genes in this cluster were reexamined in men with normal color vision by means of newly refined methods. These methods revealed that many men had more pigment genes on the X chromosome than had previously been suggested and that many had more than one long-wave pigment gene. These discoveries challenge accepted ideas that are the foundation for theories of normal and anomalous color vision.

Base Sequence↗

PubMed1995

Genetic basis of photopigment variations in human dichromats.

The spectral sensitivities of the X-encoded pigments in dichromats were studied using the electroretinogram. The action spectra measured for these subjects correspond to four distinctly different X-encoded visual pigments, two different middle-wave pigments spectrally separated by 7 nm and two different long-wave pigments separated by 5 nm. Amino acid sequences were deduced from examination of the genes encoding the pigments. Pairwise comparisons of the opsin structures and pigment spectra confirm and clarify earlier conclusions. Substitutions in exon 5 of the genes produce the spectral difference that separates human X-encoded pigments into middle- and long-wave classes. Polymorphisms in exons 2-4 produce subtypes of pigments that fall within those major classes. Substitution of half of a middle-wave gene with long-wave sequence (exons 1-3) does not shift the middle-wave spectrum. Combined substitutions at positions 230, 233 and 180 produce a 7 nm shift in the in the middle-wave pigment spectrum. Two subtypes of long-wave pigments that differ in the presence of serine or alanine at position 180 and occur in dichromats, deuteranomalous trichromats, and color normals are spectrally separated by 5-7 nm.

Adolescent↗

PubMed1995

Polymorphism in the number of genes encoding long-wavelength-sensitive cone pigments among males with normal color vision.

Examination by direct DNA sequence analysis of the X-linked visual pigment genes in 27 males with normal color vision reveals that almost half have two or more different genes encoding a long-wavelength-sensitive cone pigment. This is counter to the conventional theory proposed from results of Southern hybridization studies that there is a single long-wave pigment gene per X-chromosome. Further, the sequences and consideration of the structure of the X-linked pigment gene array suggest that the majority of the observers (as many as 2/3) have hybrid (or fusion) genes like those that have been proposed to underlie color anomaly. In some observers the long-wave hybrid genes contain a substantial amount of middle-wave sequence, e.g. five observers have hybrid long-wave genes that contain middle-wave sequences that include exon 4. Three of those five have the hybrid as their only long-wave gene, and thus have no other gene that could potentially encode a long-wave pigment. In these subjects, it is the hybrid gene that produces their normal long-wavelength-sensitive cone pigment. The high frequency of hybrid genes indicates that they are normal variant forms of the long-wave gene. Contrary to what is commonly believed, the introduction and the expression of hybrid genes is not sufficient to cause color vision defects.

Base Sequence↗

PubMed1994

Electrophysiological measurements of spectral mechanisms in the retinas of two cervids: white-tailed deer (Odocoileus virginianus) and fallow deer (Dama dama).

Electroretinogram (ERG) flicker photometry was used to study the spectral mechanisms in the retinas of white-tailed deer (Odocoileus virginianus) and fallow deer (Dama dama). In addition to having a rod pigment with maximum sensitivity (lambda max) of about 497 nm, both species appear to have two classes of photopic receptors. They share in common a short-wavelength-sensitive cone mechanism having lambda max in the region of 450-460 nm. Each also has a cone having peak sensitivity in the middle wavelengths, but these differ slightly for the two species. In white-tailed deer the lambda max of this cone is about 537 nm; for the fallow deer the average lambda max value for this mechanism was 542 nm. Deer resemble other ungulates and many other types of mammal in having two classes of cone pigment and, thus, the requisite retinal basis for dichromatic color vision.

Animals↗

PubMed1994

Functional magnetic resonance imaging (FMRI) of the human brain.

Functional magnetic resonance imaging (FMRI) can provide detailed images of human brain that reflect localized changes in cerebral blood flow and oxygenation induced by sensory, motor, or cognitive tasks. This review presents methods for gradient-recalled echo-planar functional magnetic resonance imaging (FMRI). Also included is a discussion of the hypothesized basis of FMRI, imaging hardware, a unique visual stimulation apparatus, image post-processing and statistical analysis. Retinotopic mapping of striate and extrastriate visual cortex is discussed as an example application. The described echo-planar technique permitted acquisition of an image in 40 ms with a repetition rate of up to 2 per second. However, FMRI responses are slow compared to changes in neural activity. Onset of a visual checkerboard test pattern evoked a response that was delayed by 1-2 s and reached 90% of peak in 5 s. Return to baseline following stimulation was slightly slower. Alternating control (blank) and test (checkerboard) patterns every 20 s induced a cyclic response that was detected in the presence of noise using a cross-correlation technique that was verified by parametric statistics. FMRI revealed retinotopically organized patterns of visually evoked activity in response to annular stimuli that increased in visual field eccentricity. Retinotopy was also observed with test patterns rotated around the fixation point (center of gaze). Results from repeated tests 1 week apart were highly similar. Compared to passive viewing, an active visual discrimination task enhanced responses from extrastriate association cortex.

Brain↗

PubMed1993

More than three different cone pigments among people with normal color vision.

A fundamental feature of normal color vision is that red and green lights can be mixed to appear identical with a monochromatic yellow light. Another characteristic of normal color vision is that people often disagree on the amounts of red and green needed in the mixture to exactly match the yellow. Comparison of such color vision differences with photopigment gene differences reveals that a serine/alanine polymorphism at amino acid position 180 of X-encoded pigments can account for this type of color vision variation. This amino acid change shifts the spectrum of the pigment produced by about 6 nm, a value that would predict a larger minimum color vision difference between individuals than is actually observed. This discrepancy can be explained if, counter to the Young-Helmholtz theory as the explanation of trichromacy, many people with normal color vision have more than three spectrally different cone pigments.

Base Sequence↗

PubMed1993

Genetic basis of polymorphism in the color vision of platyrrhine monkeys.

It was earlier proposed that the polymorphism of color vision observed in some neotropical monkeys could be accounted for by assuming that these animals have only a single photopigment gene locus on the X-chromosome. Three kinds of evidence have been added to existing data sets in an effort to evaluate the adequacy of the single locus model: (1) photopigment complements of squirrel monkeys (Saimiri sciureus) have been determined using electroretinogram flicker photometry; (2) photopigment pedigrees have been established for several families of squirrel monkey; (3) X-chromosome pigment genes obtained from six dichromatic monkeys (three squirrel monkeys; three tamarins--Saguinus fuscicollis) have been examined to search for sequence polymorphisms at those gene loci believed crucial for spectral tuning. All of these results are in accord with the idea that some species of platyrrhine primate have only a single type of photopigment gene on the X-chromosome.

Animals↗

PubMed1993

Photopigments and color vision in the nocturnal monkey, Aotus.

The owl monkey (Aotus trivirgatus) is the only nocturnal monkey. The photopigments of Aotus and the relationship between these photopigments and visual discrimination were examined through (1) an analysis of the flicker photometric electroretinogram (ERG), (2) psychophysical tests of visual sensitivity and color vision, and (3) a search for the presence of the photopigment gene necessary for the production of a short-wavelength sensitive (SWS) photopigment. Both electrophysiological and behavioral measurements indicate that in addition to a rod photopigment the retina of this primate contains only one other photopigment type--a cone pigment having a spectral peak ca 543 nm. Earlier results that suggested these monkeys can make crude color discriminations are interpreted as probably resulting from the joint exploitation of signals from rods and cones. Although Aotus has no functional SWS photopigment, hybridization analysis shows that Aotus has a pigment gene that is highly homologous to the human SWS photopigment gene.

Animals↗

PubMed1992

Macular phototoxicity caused by fiberoptic endoillumination during pars plana vitrectomy.

Three cases of retinal phototoxicity were caused by light from the endoilluminator used in vitrectomy. Preoperative clinical examination, color photography, and fluorescein angiography in all three cases failed to disclose retinal pigment epithelial changes. Postoperative clinical findings, photographs, and fluorescein angiograms are highly suggestive of the presence of retinal phototoxicity. The characteristics of these lesions and surgical conditions implicate the endoilluminator as the source of photic injury. The macular lesions were noted within one week of the surgical procedure, measured between 2 and 5 disk diameters in size, involved the fovea in two eyes, and resulted in marked decrease in visual acuity in two of three eyes, with persistence in one eye. Initially, whitening of the outer retina was present, but was replaced by pigmentary mottling at the level of the retinal pigment epithelium within a few weeks. Preventive measures to avoid macular phototoxicity associated with vitrectomy are discussed.

Adult↗

PubMed1991

Retinal receptors in rodents maximally sensitive to ultraviolet light.

High sensitivity to near-ultraviolet light is a fundamental feature of vision in many invertebrates. Among vertebrates there are some amphibians, birds and fishes that are also sensitive to near-ultraviolet wavelengths. This sensitivity can be achieved through a class of cone photoreceptor containing an ultraviolet-sensitive pigment. Although these receptors were thought not to exist in the eyes of mammals, we now report that some rodents have a retinal mechanism that is maximally sensitive to ultraviolet light.

Animals↗

PubMed1991

Spectral tuning of pigments underlying red-green color vision.

Variations in the absorption spectra of cone photopigments over the spectral range of about 530 to 562 nanometers are a principal cause of individual differences in human color vision and of differences in color vision within and across other primates. To study the molecular basis of these variations, nucleotide sequences were determined for eight primate photopigment genes. The spectral peaks of the pigments specified by these genes spanned the range from 530 to 562 nanometers. Comparisons of the deduced amino acid sequences of these eight pigments suggest that three amino acid substitutions produce the approximately 30-nanometer difference in spectral peaks of the pigments underlying human red-green color vision, and red shifts of specific magnitudes are produced by replacement of nonpolar with hydroxyl-bearing amino acids at each of the three critical positions.

Amino Acid Sequence↗