Sequences associated with human iris pigmentation

T Frudakis, M Thomas, Z Gaskin, K Venkateswarlu… - Genetics, 2003 - academic.oup.com
To determine whether and how common polymorphisms are associated with natural
distributions of iris colors, we surveyed 851 individuals of mainly European descent at 335 …

Identification of an organelle receptor for myosin-Va

XS Wu, K Rao, H Zhang, F Wang, JR Sellers… - Nature cell …, 2002 - nature.com
Little is known about how molecular motors bind to their vesicular cargo. Here we show that
myosin-Va, an actin-based vesicle motor, binds to one of its cargoes, the melanosome, by …

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

E Pastural, FJ Barrat, R Dufourcq-Lagelouse… - Nature …, 1997 - nature.com
Griscelli disease (OMIM 214450) is a rare autosomal recessive disorder characterized by
pigmentary dilution, variable cellular immunodeficiency and onset of acute phases of …

Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin V function in vivo

X Wu, B Bowers, K Rao, Q Wei… - The Journal of cell …, 1998 - rupress.org
Unlike wild-type mouse melanocytes, where melanosomes are concentrated in dendrites
and dendritic tips, melanosomes in dilute (myosin Va−) melanocytes are concentrated in the …

Novel myosin heavy chain encoded by murine dilute coat colour locus

JA Mercer, PK Seperack, MC Strobel, NG Copeland… - Nature, 1991 - nature.com
HUNDREDS of murine dilute mutations have been identified and analysed, making dilute
one of the best genetically characterized of all mammalian loci. The recessive dilute (d) coat …

Radiation effects on human heredity

N Nakamura, A Suyama, A Noda… - Annual review of …, 2013 - annualreviews.org
In experimental organisms such as fruit flies and mice, increased frequencies in germ cell
mutations have been detected following exposure to ionizing radiation. In contrast, there has …

Myosin-Va transports the endoplasmic reticulum into the dendritic spines of Purkinje neurons

W Wagner, SD Brenowitz, JA Hammer III - Nature cell biology, 2011 - nature.com
Extension of the endoplasmic reticulum (ER) into dendritic spines of Purkinje neurons is
required for cerebellar synaptic plasticity and is disrupted in animals with null mutations in …

Myosin V associates with melanosomes in mouse melanocytes: evidence that myosin V is an organelle motor

X Wu, B Bowers, Q Wei, B Kocher… - Journal of cell …, 1997 - journals.biologists.com
Mice with mutations at the dilute locus exhibit a 'washed out'or 'diluted'coat color. The
pigments that are responsible for the coloration of mammalian hair are produced by …

Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

C Desnos, JS Schonn, S Huet, VS Tran… - The Journal of cell …, 2003 - rupress.org
The GTPase Rab27A interacts with myosin-VIIa and myosin-Va via MyRIP or melanophilin
and mediates melanosome binding to actin. Here we show that Rab27A and MyRIP are …

Rab27a is an essential component of melanosome receptor for myosin Va

X Wu, F Wang, K Rao, JR Sellers… - Molecular biology of the …, 2002 - Am Soc Cell Biol
Melanocytes that lack the GTPase Rab27a (ashen) are disabled in myosin Va-dependent
melanosome capture because the association of the myosin with the melanosome surface …