Griscelli syndrome type 3‐like phenotype with <scp>MYO</scp>‐5A exon‐F deletion

Yılmaz, Mustafa; Çağdaş, Deniz; Grandin, Virginie; Altıntaş, Derya Ufuk; Tezcan, İlhan; Basile, Geneviève de Saint; Sanal, Özden

doi:10.1111/pai.12285

Cited by 6 publications

(4 citation statements)

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“…[ 7 ] In addition to melanophilin gene mutation, two cases of GS3 with MYO5a F-exon deletion have been reported. [ 8 9 ] Close differential diagnoses for silvery/grey hair syndromes are GS type 1 and type 2, Chediak–Higashi syndrome (CHS). [ 2 ] However, except for GS3, all other conditions are associated with variable hematological, neurological, and immunological abnormalities, which were absent in our patient.…”

Section: Discussionmentioning

confidence: 99%

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Griscelli syndrome type 3 with coexistent universal dyschromia—An uncommon association of a rare entity

Mathachan

Sinha

Malhotra

2020

Indian Dermatol Online J

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Section: Discussionmentioning

confidence: 99%

“…Cases of GS3 reported so far with associated additional features are summarized in Table 2 . [ 1 2 3 4 5 6 7 8 9 11 12 13 14 15 16 17 ]…”

Section: Discussionmentioning

confidence: 99%

Griscelli syndrome type 3 with coexistent universal dyschromia—An uncommon association of a rare entity

Mathachan

Sinha

Malhotra

2020

Indian Dermatol Online J

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“…Defective expression of the MYO5a gene in humans causes the autonomic recessive disorder, Griscelli syndrome Type I, which is characterized in affected infants by silvery grey hair color and signs of severe neurological impairment such as developmental delays, seizures, opisthotonus, and hypotonia ( Griscelli et al, 1978 ; Griscelli and Prunieras, 1978 ). Interestingly, genetic changes in Myo5a/MYO5a genes that apparently affect only pigmentation have also been described in both mice and humans; these include mutation within, or even deletion of, a single exon of the Myo5a monomer ( Huang et al, 1998 ; Menasche et al, 2003 ; Yilmaz et al, 2014 ).…”

Section: Introductionmentioning

confidence: 99%

“…In brain Myo5a, the exon arrangement ABCE predominates, while in skin and other tissues such as spleen, variants with other exon arrangements are expressed ( Seperack et al, 1995 ). In patients with Griscelli syndrome who have abnormal pigmentation but no apparent neurological defects, alternative exon F is deleted ( Menasche et al, 2003 ; Yilmaz et al, 2014 ). This exon is involved in efficient transport of pigment-containing granules (melanosomes) to the tips of skin melanocytes for their transfer to keratinocytes ( Au and Huang, 2002 ).…”

Section: Introductionmentioning

confidence: 99%

Differential Myosin 5a splice variants in innervation of pelvic organs

Carew,

Cristofaro,

Goyal

et al. 2023

Front. Physiol.

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Introduction: Myosin proteins interact with filamentous actin and translate the chemical energy generated by ATP hydrolysis into a wide variety of mechanical functions in all cell types. The classic function of conventional myosins is mediation of muscle contraction, but myosins also participate in processes as diverse as exocytosis/endocytosis, membrane remodeling, and cytokinesis. Myosin 5a (Myo5a) is an unconventional motor protein well-suited to the processive transport of diverse molecular cargo within cells and interactions with multiprotein membrane complexes that facilitate exocytosis. Myo5a includes a region consisting of six small alternative exons which can undergo differential splicing. Neurons and skin melanocytes express characteristic splice variants of Myo5a, which are specialized for transport processes unique to those cell types. But less is known about the expression of Myo5a splice variants in other tissues, their cargos and interactive partners, and their regulation.Methods: In visceral organs, neurotransmission-induced contraction or relaxation of smooth muscle is mediated by Myo5a. Axons within urogenital organs and distal colon of rodents arise from cell bodies located in the major pelvic ganglion (MPG). However, in contrast to urogenital organs, the distal colon also contains soma of the enteric nervous system. Therefore, the rodent pelvic organs provide an opportunity to compare the expression of Myo5a splice variants, not only in different tissues innervated by the pelvic nerves, but also in different subcellular compartments of those nerves. This study examines the expression and distribution of Myo5a splice variants in the MPG, compared to the bladder, corpus cavernosum of the penis (CCP) and distal colon using immunohistochemistry and mRNA analyses.Results/discussion: We report detection of characteristic Myo5a variants in these tissues, with bladder and CCP displaying a similar variant pattern but one which differed from that of distal colon. In all three organs, Myo5a variants were distinct compared to the MPG, implying segregation of one variant within nerve soma and its exclusion from axons. The expression of distinct Myo5a variant arrays is likely to be adaptive, and to underlie specific functions fulfilled by Myo5a in those particular locations.

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