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J Nathans

Publications and source records attributed to J Nathans.

99 records · Page 6Linked to original sources
PubMed1986

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments.

Human color vision is based on three light-sensitive pigments. The isolation and sequencing of genomic and complementary DNA clones that encode the apoproteins of these three pigments are described. The deduced amino acid sequences show 41 +/- 1 percent identity with rhodopsin. The red and green pigments show 96 percent mutual identity but only 43 percent identity with the blue pigment. Green pigment genes vary in number among color-normal individuals and, together with a single red pigment gene, are proposed to reside in a head-to-tail tandem array within the X chromosome.

Amino Acid Sequence↗
PubMed1986

Molecular genetics of inherited variation in human color vision.

The hypothesis that red-green "color blindness" is caused by alterations in the genes encoding red and green visual pigments has been tested and shown to be correct. Genomic DNA's from 25 males with various red-green color vision deficiencies were analyzed by Southern blot hybridization with the cloned red and green pigment genes as probes. The observed genotypes appear to result from unequal recombination or gene conversion (or both). Together with chromosome mapping experiments, these data identify each of the cloned human visual pigment genes.

Animals↗
PubMed1984

Isolation and nucleotide sequence of the gene encoding human rhodopsin.

We have isolated and completely sequenced the gene encoding human rhodopsin. The coding region of the human rhodopsin gene is interrupted by four introns, which are located at positions analogous to those found in the previously characterized bovine rhodopsin gene. The amino acid sequence of human rhodopsin, deduced from the nucleotide sequence of its gene, is 348 residues long and is 93.4% homologous to that of bovine rhodopsin. Interestingly, those portions of the polypeptide chain predicted to form loops on the cytoplasmic face of rhodopsin are perfectly conserved between the human and bovine proteins.

Amino Acid Sequence↗
PubMed1983

Isolation, sequence analysis, and intron-exon arrangement of the gene encoding bovine rhodopsin.

We have isolated cDNA clones generated from the mRNA encoding the opsin apoprotein of bovine rhodopsin and used these cDNAs to isolate genomic DNA clones containing the complete opsin gene. Nucleotide sequence analysis of the cloned DNAs has yielded a complete amino acid sequence for bovine rhodopsin and provided an intron-exon map of its gene. The mRNA homologous sequences in the 6.4 kb gene consist of a 96 bp 5' untranslated region, a 1044 bp coding region, and a surprisingly long approximately 1400 bp 3' untranslated region, and are divided into five exons by four introns that interrupt the coding region. Secondary structure analysis predicts that the bovine rhodopsin chain, like that of bacteriorhodopsin, contains seven transmembrane segments. Interestingly, three of the four introns are immediately distal to the codons for three of these segments, and one of these introns marks the boundary between the C-terminal domain and a transmembrane domain.

Amino Acid Sequence↗
PubMed1979

Draw-A-Person Test: implications for gender identification.

Human figure drawings were collected from 50 gender dysphoric adults and compared with the drawings of 84 adult evening-school students and college sophomores. The gender dysphoric males drew a person of the opposite sex first more often than the control group males (p less than 0.001). The gender dysphoric females drew a person of the opposite sex first more often than the control group females (p less than 0.05). Results are discussed in light of existing literature of the DAP and gender identity formation.

Adult↗
PubMed1979

Cloning and nucleotide sequence of DNA coding for bovine preproparathyroid hormone.

We have cloned in Escherichia coli a DNA copy of mRNA coding for bovine preproparathyroid hormone. Double-stranded DNA was inserted into the Pst I site in plasmid pBR322 by using the poly(dG)-poly(dC) homopolymer extension technique to join the DNA molecules. Recombinant plasmids coding for preproparathyroid hormone were identified by the plasmid's ability to arrest specifically the translation of preproparathyroid hormone mRNA. The nucleotide sequence of the largest recombinant was determined by using both chemical and enzymatic techniques. The parathyroid insert contains 470 nucleotides--102 nucleotides from the 5' noncoding region of the mRNA, 345 nucleotides representing the entire coding region, and 23 nucleotides from the 3' noncoding region. The coding sequence clarifies the hormone's amino acid sequence, which has been disputed. Codon usage is discussed.

Amino Acid Sequence↗
PubMedDate not supplied

A sequence upstream of the mouse blue visual pigment gene directs blue cone-specific transgene expression in mouse retinas.

A 6.4-kb sequence upstream of the mouse blue visual pigment gene has been assayed in transgenic mice for the ability to direct cell-type-specific expression of a linked beta-galactosidase (lacZ) reporter. The construct is expressed specifically in cone photoreceptors in three independent lines. Transgene expression is found in the developing retina on the first postnatal day, increases rapidly in subsequent days, and persists through adulthood. A gradient of transgene expression is observed across the retina, with the transgene-expressing cones found almost exclusively in the lower retina and rarely in the upper retina, a pattern that parallels the distribution of blue cones in the mouse retina. Double-labeling with anti-cone pigment antibodies shows that transgene expression is confined to blue cones. These results imply that all of the sequence elements necessary for the control of blue cone-specific expression are encoded within the 6.4-kb DNA fragment tested.

Animals↗
PubMedDate not supplied

Similarities and differences among inner retinal neurons revealed by the expression of reporter transgenes controlled by Brn-3a, Brn-3b, and Brn-3c promotor sequences.

Brn-3a, Brn-3b, and Brn-3c are highly homologous POU-domain transcription factors that are expressed in subsets of retinal ganglion cells. From each of the mouse Brn-3 genes, a DNA segment ranging in size from 4.6 to 13.4 kb and located immediately upstream of the start site of translation was joined to a human placental alkaline phosphatase (AP) reporter cDNA. Following the introduction of each construct into the mouse germline, a total of 19 transgenic lines were obtained, of which 16 expressed the AP reporter in the retina. Unexpectedly, at least 14 of the 16 expressing lines showed AP activity in subsets of amacrine cells, and these subsets typically differed among mouse lines injected with the same construct. Transgene expression was also found in ganglion cells in four lines and bipolar cells in seven lines. In all cases AP activity was confined to cells in the inner nuclear layer and the ganglion cell layer. The expression of Brn-3 transgenes in multiple cell types in the inner retina is reminiscent of earlier experiments in which visual pigment transgenes were found to be expressed in multiple cell types in the outer retina. Taken together, these observations suggest that anatomically and/or functionally related retinal neurons contain partially overlapping transcriptional regulatory specificities.

Alkaline Phosphatase↗