p

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..In addition, observations of elevated embryo mortality are potentially explained by an aberrant distribution of nuclear material in early embryos which is similar to that seen in the mutant giant nuclei...

..On the basis of these phenotypes and the known atomic structure of actin, possible alterations in the structure of actin brought about by these mutations are discussed...

..Two mutants were identified as being new alleles of the previously identified doublesex (dsx) and pink (p) genes...

..0. A study of the activity in different eye-color mutant strains revealed significantly decreased levels in clot, red Malpighian tubules and garnet...

..Thus, Low is a modifier that plays a role in modulating the expression of genes governing various processes including pigment deposition, eye development, chromosomal proteins and position effect variegation...

..Our results implicate ct in the regulation of expression and/or function of two homeotic genes and document a new role of ct in the control of segmental identity...

..Thus, classical work describing more than 85 eye-colour mutations and their genetic interactions offers a remarkable, untapped resource for the genetic analysis of protein delivery to lysosomes...

..Recent discoveries show that several of these mutations directly affect components in the pathway of organelle-specific protein trafficking, and provide new insights into the relationships of these pathways in mammals, flies and yeast...

..This observation supports a role for these genes in intracellular transport and leads to a model whereby incorrect sorting of the white gene product can explain the pigmentation phenotypes of an entire group of eye-color genes...

..Thus, this virus model provides a sensitive and efficient approach for identifying components required for pathogenesis...

..In both cases, deleterious alleles are apparently eliminated by selection against heterozygous individuals, which show no visible phenotypic differences from wild type...

..While Prosbeta2(1) shows a modest increase in the number of defective mitotic figures, there were no defects seen with the other two mutants, other than slightly reduced mitotic indexes...

..the gene encoding the Drosophila ortholog of the HPS5 subunit of BLOC-2 is identical to the granule group gene pink (p), which was first studied in 1910 but had not been identified at the molecular level...

..These observations suggest that if mle plays a role in the discrimination of the X and the autosomes, it may do so by modification of the effects of dosage sensitive regulatory genes...

..Although the two types of irradiations differ by an ion density of approximately ten, the amount and types of inheritable genetic damage induced by the two radiations in mature sperm were not significantly different...

..Isoxanthopterin was quantitated in strains carrying deficiencies for the region in which lix has been mapped by recombination. This allowed us to assign the lix locus to the 7D10-7F1-2 segment of the X chromosome...

..Two mutations affecting the red eye pigments (drosopterins), bw and mal, do not substantially perturb brown pigment synthesis in any of the four organs...

..The eye-colour mutants show large effects on the red and brown pigments. The high variability of the eye-colour loci is discussed in relation to the mutation and selection hypotheses...

..Thus, the failure to complement appears to require the presence of the altered alpha-tubulin encoded by the nc33 allele, which may act as a structural poison when incorporated into either the tubulin heterodimer or microtubules...

..The breakpoint sites of a number of 85A chromosome rearrangements were localized on the molecular map, thereby delimiting regions of the DNA that contain the various genetic complementation groups...

..A possible formal relationship between Rg-pbx, ftz, and the postbithorax (pbx) locus is proposed...

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..Heterozygous mutant embryos derived from a homozygous mutant germ line develop normally, indicating that maternal gene expression is not required for normal development...

..Only DTS-4 exhibited dominant lethality in triploid females...

..All four mutant genes encode beta 2-tubulin subunits that are synthesized at normal rates but do not accumulate. All mutants are completely male sterile as homozygotes...

..Chromosomal events unrelated to microtubule function, such as replication and condensation, occur normally. Results obtained during mapping of the B2t locus strongly suggest a haplo-insufficient site at or closely linked to this locus...

..An examination of the chromosomal positioning of Drosophila HPS gene orthologues suggested that CG9770, the Drosophila HPS5 orthologue, might correspond to the pink locus...

..These genetic studies should provide a basis for a comprehensive understanding of the genetic control of immune responses in Drosophila...

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..The most frequent craniofacial birth defects are orofacial clefts: cleft lip +/- cleft palate (CL/P) affects ~1 per 1100 births in the USA, and cleft palate ~1 per 1600 births...

..Together, these studies should provide a greatly improved understanding of the molecular pathogenesis of oculocutaneous and ocular albinism. ..

..The long-term significance of this work may be to develop specific approaches to disease therapy and prevention and to apply those modalities to patients at high genetic risk. ..

..Isolated, "non-syndromic" CL/P (nsCb'P) is the most common craniofacial birth defect, accounting for -70% of all cases of CL/P...

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..The long-term goal of these studies is improve understanding of disease pathogenesis to facilitate developing novel treatments for vitiligo and perhaps other autoimmune diseases. ..

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..The first specific aim is to continue mutational and functional analyses of known OCA genes, particularly the P gene, associated with OCA2...

..The last aim is to initiate studies to determine the function of the ED4 gene. ..

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