Literature DB >> 8043950

Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm.

E P O'Brien1, E K Novak, S A Keller, C Poirier, J L Guénet, R T Swank.   

Abstract

The mouse ruby eye (ru) and pale ear (ep) pigment dilution genes cause platelet storage pool deficiency (SPD) and prolonged bleeding times. The brachymorphic (bm) gene, in addition to causing skeletal abnormalities, is also associated with prolonged bleeding times. All three hemorrhagic genes are found within 10 cM on Chromosome (Chr) 19. In this study, 15 microsatellite markers and five cDNAs, spanning 21 cM of Chr 19, were mapped in relation to the bm, ep, and ru genes in 457 progeny of an interspecific backcross utilizing the highly inbred strain PWK derived from the Mus musculus musculus species. Several markers were found to be closely linked to the three genes and should be useful as entry points in their eventual molecular identification.

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Year:  1994        PMID： 8043950     DOI： 10.1007/bf00356554

Source DB:  PubMed          Journal:  Mamm Genome        ISSN： 0938-8990            Impact factor:   2.957


  39 in total

1.  Hereditary defect in platelet function in rats.

Authors:  T B Tschopp; M B Zucker
Journal:  Blood       Date:  1972-08       Impact factor: 22.113

2.  Corrected centromere orientation for mouse chromosome 19 MIT markers.

Authors:  E M Eicher; E P Shown; D Bhat; M F Seldin
Journal:  Mamm Genome       Date:  1993       Impact factor: 2.957

Review 3.  A Macintosh program for storage and analysis of experimental genetic mapping data.

Authors:  K F Manly
Journal:  Mamm Genome       Date:  1993       Impact factor: 2.957

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Journal:  Proc Natl Acad Sci U S A       Date:  1984-04       Impact factor: 11.205

5.  The Chediak-Higashi syndrome of cats.

Authors:  J W Kramer; W C Davis; D J Prieur
Journal:  Lab Invest       Date:  1977-05       Impact factor: 5.662

6.  Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: studies on one hundred six patients.

Authors:  H K Nieuwenhuis; J W Akkerman; J J Sixma
Journal:  Blood       Date:  1987-09       Impact factor: 22.113

7.  LyF-1, a transcriptional regulator that interacts with a novel class of promoters for lymphocyte-specific genes.

Authors:  K Lo; N R Landau; S T Smale
Journal:  Mol Cell Biol       Date:  1991-10       Impact factor: 4.272

8.  Sandy: a new mouse model for platelet storage pool deficiency.

Authors:  R T Swank; H O Sweet; M T Davisson; M Reddington; E K Novak
Journal:  Genet Res       Date:  1991-08       Impact factor: 1.588

9.  Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha.

Authors:  R T Swank; M Reddington; O Howlett; E K Novak
Journal:  Blood       Date:  1991-10-15       Impact factor: 22.113

Review 10.  The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations.

Authors:  R A DePinho; K L Kaplan
Journal:  Medicine (Baltimore)       Date:  1985-05       Impact factor: 1.889
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  14 in total

1.  The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.

Authors:  J M Gardner; S C Wildenberg; N M Keiper; E K Novak; M E Rusiniak; R T Swank; N Puri; J N Finger; N Hagiwara; A L Lehman; T L Gales; M E Bayer; R A King; M H Brilliant
Journal:  Proc Natl Acad Sci U S A       Date:  1997-08-19       Impact factor: 11.205

2.  High-resolution genetic mapping of the gunmetal gene which regulates platelet production.

Authors:  E P O'Brien; L Zhen; S Y Jiang; E K Novak; R T Swank
Journal:  Mamm Genome       Date:  1996-03       Impact factor: 2.957

3.  Mart1 is located on mouse chromosome 19 and is excluded as a candidate for ep and ru.

Authors:  A Wright; Y Kawakami; W Pavan
Journal:  Mamm Genome       Date:  1997-05       Impact factor: 2.957

4.  A fusion pore phenotype in mast cells of the ruby-eye mouse.

Authors:  A F Oberhauser; J M Fernandez
Journal:  Proc Natl Acad Sci U S A       Date:  1996-12-10       Impact factor: 11.205

5.  Pigmentation, pleiotropy, and genetic pathways in humans and mice.

Authors:  G S Barsh
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

6.  Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

Authors:  J Oh; L Ho; S Ala-Mello; D Amato; L Armstrong; S Bellucci; G Carakushansky; J P Ellis; C T Fong; J S Green; E Heon; E Legius; A V Levin; H K Nieuwenhuis; A Pinckers; N Tamura; M L Whiteford; H Yamasaki; R A Spritz
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

7.  The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.

Authors:  Tamio Suzuki; Naoki Oiso; Rashi Gautam; Edward K Novak; Jean-Jacques Panthier; P G Suprabha; Thomas Vida; Richard T Swank; Richard A Spritz
Journal:  Proc Natl Acad Sci U S A       Date:  2003-01-21       Impact factor: 11.205

8.  Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD).

Authors:  E P O'Brien; E K Novak; L Zhen; K F Manly; D Stephenson; R T Swank
Journal:  Mamm Genome       Date:  1995-01       Impact factor: 2.957

9.  Molecular markers near the mouse brachymorphic (bm) gene, which affects connective tissues and bleeding time.

Authors:  M E Rusiniak; E P O'Brien; E K Novak; S M Barone; M P McGarry; M Reddington; R T Swank
Journal:  Mamm Genome       Date:  1996-02       Impact factor: 2.957

10.  A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.

Authors:  S C Wildenberg; W S Oetting; C Almodóvar; M Krumwiede; J G White; R A King
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025
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