Benutzerin:Kersti Nebelsiek/11

Albinismus

Mensch, OCA2: Nichtpathogene Varianten dieses Gens werden in signifikant verschiedenen Frequenzen in unterschiedlichen Populationsgruppen gefunden. Dies könnte einen Hinweis darauf geben, daß das Gen auch für normale Pigmentvariationen eine Rolle spielt.

HPS - “pale ear”, "light ear", "pearl" Locus der Maus

Homologe Gene zu HPS1, dessen Mutation beim Menschen das Hermansky-Pudlak-Syndrom hervorruft, liegt bei der Maus auf dem “pale ear” Locus des Chromosoms 19. Mäuse mit einer Mutation dieses Gens sehen fast wie normal gefärbte Mäuse aus, haben aber hellere Ohren.

Außerdem gibt es einen weiteren Locus, dessen Mutation fast identische Symptome bei der Maus hervorruft, der "light ear"-Locus (le). Beim Menschen entspricht das dem Locus HPS4 ⁽⁴⁾.

Ein weiterer Genort der Maus, “pearl”, stellt ebenfalls ein Modell für HPS dar. Dieses codiert eine Untereinheit eines Adapter Komplexes (AP3), der Signale löslicher Stoffe und von Membranproteinen, die Teil eines Vesikels werden, erkennt (INTRONE et al., 1999). Der “pearl” Locus befindet sich auf dem Chromosom 13 (SAGAI et al., 1998).

• ⁽⁴⁾ Tamio Suzuki, Wei Li, Qing Zhang, Amna Karim, Edward K. Novak, Elena V. Sviderskaya, Simon P. Hill, Dorothy C. Bennett, Alex V. Levin, H. Karel Nieuwenhuis, Chin-To Fong, Claudio Castellan, Bianca Miterski, Richard T. Swank & Richard A. Spritz; Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene; Published online: 11 February 2002, DOI: 10.1038/ng835 re .com; nature genetics • volume 30 • march 2002

Chédiak-Higashi-Syndrom (CHS) - “beige” Phänotypen der Maus

Die Ursache für den “beige” Phänotypen der Maus bzw. das Chédiak-Higashi Syndrom (CHS) des Menschen sind Varianten des LYST Gens, das bei der Maus auf dem Chromosom 13 und beim Menschen auf dem Chromosom 1 kartiert ist. Die Beeinträchtigung von Melanosomen, Lysosomen und Plättchenkörper, die einen gemeinsamen Ursprung haben läßt eine Funktion des LYST Proteins bei der Vesikelbildung oder deren Transport vermuten. Der Transport Tyrosinase haltiger Vesikel vom GolgiApparat zu den Prämelanosomen wird wahrscheinlich durch Mikrotubuli verwirklicht, mit denen der LYST assoziiert ist. Durch LYST Mutationen erreichen die Vesikel die Prämelanosomen nicht, und durch die Verschmelzung von Prämelanosomen entstehen Riesengranula. Mutationen in den homologen Genen wurden bereits beim Rind und bei der Ratte identifiziert.

http://www.informatics.jax.org/searches/allele_report.cgi?markerID=MGI:107448

Griscelli-Syndrom - Aufhellung (dilution D)

D-Locus D Keine Verdünnung d Aufhellung, Malteserfärbung d 15H Farbausprägung zwischen D und d d l Aufhellung wie d, homozygot letal

Tabelle 2.4: Farballelserien beim Rind nach LAUVERGNE (1965, 1977b, 1981, 1983) D Vollständige Pigmentierung d f Verdünnung des Fleckviehs

Maus: Nach GRÜNEBERG (1952) haben die Allele b (brown), d (dilution), p (pink-eye dilution) und "pallid" der Maus einen Effekt auf das Wachstum. GREEN (1933) fand, daß braune Mäuse signifikant schwerer sind als schwarze und nicht-agouti gefärbte Tiere schwerer als agoutifarbene. Den Einfluß der Braunfärbung führt er auf eine Kopplung zwischen dem B-Locus und den Wachstumsmerkmalen zurück (GREEN, 1935a, b). Ähnliche Zusammenhänge konnte er für die Ratte und das Kaninchen darstellen. Er geht davon aus, daß die Farbgene einen direkten Einfluß auf das Wachstum ausüben.

Die tödliche Mutante d^l des Dilution-Locus ist anhand der Fellfarbe nicht von der dazu gehörigen blauen Verdünnung zu unterscheiden. Tiere, die für d^l homozygot sind, entwickeln einen Opisthotonus, Ataxie und schwere Krampfanfälle nach Beginn des Laufenlernens, die im Absetzalter zum Tod des Tieres führen. KELTON (1961b) fand eine ausgedehnte Demyelinisierung bestimmter Nervenabschnitte in d^l homozygoten Mäusen. HUANG et al. nehmen jedoch an, daß Defekte des glatten endoplasmatischen Reticulums in Nervenzellen das Krankheitsbild verursachen.

Eine Mutation an einem weiteren Locus kann den Effekt der D-Serie auf die Melanocyten wieder aufheben und wird demzufolge als "dilute supressor (dsu)" bezeichnet. Der neurologische Defekt bleibt jedoch bestehen.

Eine ähnliche Erkrankung ist bei der Ratte für den Genort "dop" (dilute-opisthotonus) bekannt.

Notitzen

• Lyons LA, Foe IT, Rah HC, Grahn RA: Chocolate coated cats: TYRP1 mutations for brown color in domestic cats. In: Mamm Genome. 2005 May;16(5):356-66. PMID 16104383 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16104383&query_hl=43&itool=pubmed_docsum

• Gratten J, Beraldi D, Lowder BV, McRae AF, Visscher PM, Pemberton JM, Slate J: Compelling evidence that a single nucleotide substitution in TYRP1 is responsible for coat-colour polymorphism in a free-living population of Soay sheep. Proc Biol Sci. 2007 Mar 7;274(1610):619-26. http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17254985&ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
• Schmidt-Kuntzel A, Eizirik E, O'Brien SJ, Menotti-Raymond M: Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci. J Hered. 2005 Jul-Aug;96(4):289-301. Epub 2005 Apr 27. PMID 15858157 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=15858157&ordinalpos=10&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

Albinismus bei Arthtropoden

• G. H. Ballantyne: Genetic fine structure and complementation at the albino locus in spider mites (Tetranychus species: Acarina)
• Peroxidase and Tyrosinase Are Present in Secondary Lysosomes That Degrade Photosensory Membranes of the Crayfish Photoreceptor: Possible Role in Pigment Granule Formation ... PMID 1667820
• Function-informed transcriptome analysis of Drosophila renal tubule

Drosophila tubule as a model for human genetic disease

Gene: CG4484 Affymetrix signal 504 ± 50 Enrichment 12.0 Blast probability 1.00E-49 OMIM reference 606202 Human disease Oculocutaneous albinism, type IV, 606574

• On Heredity of Two Forms of Albinism and On the Fitness of Albinos in the Turkish Desert Woodlouse Hemilepistus Elongatus Budde-Lund, 1885 (Isopoda, Oniscidea)
• A single gene (yes) controls pigmentation of eyes and scales in Heliothis virescens.

HPS5

• The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene
• The Drosophila Pigmentation Gene pink (p) Encodes a Homologue of Human Hermansky–Pudlak Syndrome 5 (HPS5)

Albinismus bei Fischen

medaka fish, Genetik, Japan-Reiskärpfling

• Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka
• Albinism Due to Transposable Element Insertion in Fish
• A genetic screen for mutations affecting embryonic development in medaka fish (Oryzias latipes)

zebrafish, Zebrabärbling

• Mutations affecting xanthophore pigmentation in the zebrafish, Danio rerio

Vorkommen

• Reduction in Occurrence Frequency of Albinism in Juvenile Flounder Paralichthys olivaceus Hatchery- …
• Biochemical and histochemical activities of tyrosinase in the skins of normal and albino turbot scophthalmus maximus (Steinbutt) Der Steinbutt Scophthalmus maximus ist im Nordost-Atlantik, in der westlichen Ostsee und im Mittelmeer verbreite

amphibien

• The cause of the decreased number of primordial germ cells in albino Xenopus resides not in the micro-environment but in the presumptive PGC

andere

keine funde zu "albinism snail"

• Chordate ancestry of the neural crest: New insights from ascidians

Lipophoren

OMIM

• Online Mendelian Inheritance of Man

Funktionsweise der Thyrosinase

• Analysis of Mutations in the Copper B Binding Region Associated With Type I (Tyrosinase-Related) Oculocutaneous Albinism

Potentielle Quellen

• A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. PMID 19555431

HPS

Mensch

• Hermansky-pudlak syndrome in pregnancy. PMID 19370510
• [Familial pulmonary fibrosis in 2 mexican sisters with Hermansky-Pudlak syndrome] PMID 19410348
• Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting. PMID 19523149
• Hermansky-Pudlak syndrome in two African-American brothers. PMID 19334085
• Two successful vaginal births after cesarean section in a patient with Hermansky-Pudlak syndrome who was treated with 1-deamino-8-arginine-vasopression during labor. PMID 19160629
• Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child. PMID 18473428
• An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. PMID 17933573
• Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. PMID 18544035
• Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. PMID 17365864
• Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database. PMID 16550546
• Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome. PMID 16733390
• Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. PMID 16420244
• Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. PMID 16431308
• Hermansky-Pudlak syndrome: dental management considerations. PMID 16734315
• Pulmonary fibrosis in hermansky-pudlak syndrome. a case report and review. PMID 16490934
• Eye movement abnormalities in hermansky-pudlak syndrome. PMID 16102489
• Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR. PMID 15952982
• Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). PMID 15102850
• Color vision in patients with the Hermansky-Pudlak syndrome. PMID 15580910
• A clinical variant of familial Hermansky-Pudlak syndrome. PMID 12827064
• Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. PMID 12125811

Interestingly, a recent genome-wide analysis of the interaction map of Drosophila melanogaster (45) identified interactions between the Drosophila counterparts of Dysbindin (CG6856) and Pallidin (CG14133), Pallidin and BLOS1 (CG30077), and Snapin (CG32951) and BLOS2 (CG14145); these reported interactions are fully consistent with our results shown in Fig. 6. Taken together, our data strongly suggest that Snapin, BLOS1, BLOS2, and BLOS3 are part of BLOC-1. However, we cannot rule out the possibility that some of these proteins may have additional physiological functions independent of the complex.

Tier

• The Zebrafish fade out mutant: a novel genetic model for Hermansky-Pudlak syndrome. PMID 17003448
• Hermansky-Pudlak syndrome: vesicle formation from yeast to man. PMID 12453182 (yeast=Hefe)

HPS 1

Mensch

• The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene. PMID 19665357
• Hermansky-Pudlak syndrome type 1 in patients of Indian descent. PMID 19398212
• Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. PMID 16417222
• High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. PMID 16185271
• Hermansky-Pudlak syndrome with a novel mutation. PMID 16093596
• Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. PMID 15675963
• Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. PMID 15288994
• Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency. PMID 15020272
• Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance. PMID 14510955
• Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. PMID 12777251
• BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. PMID 12756248
• Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. PMID 12847290
• The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. PMID 11861280
• Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. PMID 12442288

Tier

• Feng GH, Bailin T, Oh J, Spritz RA. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare "AT-AC" intron. Hum Mol Genet. 1997;6: 793-797. (HPS1)
• The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. PMID 11912185

HPS 2

Mensch

• Two patients with Hermansky Pudlak Syndrome Type 2 and novel mutations in AP3B1. PMID 19679886
• Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. PMID 16551969
• Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. PMID 16537806
• Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1. PMID 15982315
• Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. PMID 15675963
• Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. PMID 14566336
• The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. PMID 11861280
• Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. PMID 11809908

Tier

• Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. PMID 12777251

HPS 3

Mensch

• Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. PMID 16417222
• Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. PMID 15675963
• Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. PMID 15288994

Tier

• Suzuki T, Li W, Zhang Q, et al. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Genomics. 2001;78: 30-37. PMID 11707070

HPS 4

Mensch

• Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. PMID 15108212
• BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. PMID 12756248
• Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. PMID 12847290
• Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. PMID 12664304

Tier

• Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. PMID 11836498

HPS 5

• The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). PMID 17156100
• A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5. PMID 18182080
• Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. PMID 15296495
• Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. PMID 15030569
• Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. PMID 12548288

HPS 6

• Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. PMID 15030569
• Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. PMID 12548288

HPS 7

• Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). PMID 12923531

HPS 8

• A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). PMID 16385460
• Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. PMID 15265785

cappuchino mouse

• Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). PMID 12576321

Others

• A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. PMID 17041891

OCA 1

• Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. PMID 19006216
• Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. PMID 16417222

OCA 2

• A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population. PMID 19397757
• Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. PMID 16417222
• [Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type II] PMID 16378950
• P gene mutations associated with oculocutaneous albinism type II (OCA2). PMID 15712365
• P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. PMID 15173252

OCA 3

• A case of Asian Indian OCA3 patient. PMID 19533799

OCA 4

Mensch

• Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. PMID 19610114
• A Chinese case of oculocutaneous albinism type 4 with two novel mutations. PMID 18986462
• SLC45A2 variations in Indian oculocutaneous albinism patients. PMID 17768386
• Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. PMID 14961451
• Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. PMID 14722913
• A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. PMID 12469324

Tier:

• Functional analysis of OCA4 mutant sequences using under white mouse melanocytes. PMID 19220778

OA1

• GPR143 mutational analysis in two Italian families with X-linked ocular albinism. PMID 19604113

chocolate mice

• Analysis and expression of Rab38 in oculocutaneous lung disease. PMID 18413250
• The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. PMID 15112108

ashen mice

ashen encodes RAB27a, which has been associated with Griscelli syndrome in humans.33

• The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background. PMID 12070017

interessant

Autism

• Novel de novo SHANK3 mutation in autistic patients. PMID 18615476