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CAPPUCCINO OKDB#: 1668
 Symbols: CAPPUCCINO Species: D. melanogaster
 Synonyms: CNO|  Locus: 4p16.1 in Homo sapiens


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General Comment D. melanogaster gene cappuccino , abbreviated as capu , is reported here . It has also been known in FlyBase as CG15420. It encodes a putative actin binding involved in eggshell formation which is expressed in the adult (ovary ) and ovary (follicle cell , germarium region 2a,2b,3 , nurse cell and oocyte ). Similar sequences have been identified in Caenorhabditis elegans , Homo sapiens , Mus musculus and chicken . It has been sequenced and its amino acid sequence contains a formin Homology 2 Domain . It has been mapped by recombination to 2-8 and cytologically to 24C5--6 . It interacts genetically with mael , grk , Egfr , nos , Ets97D and 5 other listed genes. There are 13 recorded alleles : 12 classical mutants (1 available from the public stock centers) and 1 wild-type. Mutations have been isolated which affect the maternal effect dorsal appendage , the maternal effect pole cell , the maternal effect pole granule and 11 other listed tissues and are recessive female sterile and embryonic recessive maternal effect dorsal-ventral polarity lethal. capu is discussed in 129 references (excluding sequence accessions), dated between 1989 and 2002. These include at least 11 studies of mutant phenotypes , 6 studies of wild-type function and 7 molecular studies . Among findings on capu mutants, capu mutant embryos exhibit an absence of posterior pole plasm, polar granules and pole cells. Among findings on capu function, the posterior signal can be active at the anterior independent of capu function.

General function Cytoskeleton
Comment
Cellular localization Cytoplasmic, Cytoskeleton
Comment
Ovarian function Germ cell development
Comment cyst formation Johnstone et al reviewed translational regulation and RNA localization in Drosophila oocytes and embryos.Translational control is a prevalent means of gene regulation during Drosophila oogenesis and embryogenesis. Multiple maternal mRNAs are localized within the oocyte, and this localization is often coupled to their translational regulation. Subsequently, translational control allows maternally deposited mRNAs to direct the early stages of embryonic development. In this review we outline some general mechanisms of translational regulation and mRNA localization that have been uncovered in various model systems. Then we focus on the posttranscriptional regulation of four maternal transcripts in Drosophila that are localized during oogenesis and are critical for embryonic patterning: bicoid (bcd), nanos (nos), oskar (osk), and gurken (grk). Cis- and trans-acting factors required for the localization and translational control of these mRNAs are discussed along with potential mechanisms for their regulation.
Expression regulated by
Comment
Ovarian localization Primordial Germ Cell
Comment
Follicle stages
Comment
Phenotypes
Mutations 1 mutations

Species: mouse
Mutation name: None
type: null mutation
fertility: fertile
Comment: Gwynn et al. (2000) described a new spontaneous mutation in the mouse, 'cappuccino' (cno), that maps to mouse chromosome 5 in a region conserved with human 4p16-p15. Melanosomes of cno/cno mice were found to be immature and dramatically decreased in number in the eye and skin, resulting in severe oculocutaneous albinism. Platelet dense body contents (adenosine triphosphate, serotonin) were markedly deficient, leading to defective aggregation and prolonged bleeding. Lysosomal enzyme concentrations were significantly elevated in the kidney and liver. Genetic, immunofluorescence microscopy, and lysosomal protein trafficking studies indicated that the AP3 complex is intact in cno/cno mice. Gwynn et al. (2000) concluded that the cappuccino gene encodes a product involved in an AP3-independent mechanism critical to the biogenesis of lysosome-related organelles

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Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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http://flybase.bio.indiana.edu/.bin/fbidq.html?FBrf0141280
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created: Dec. 13, 2002, 1:51 p.m. by: mazerbou   email:
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last update: Dec. 20, 2002, 9:47 a.m. by: system    email:



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