Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

Cormand, Bru; Avela, Kristiina; Pihko, Helena; Santavuori, Pirkko; Talim, Beril; Topaloǧlu, Haluk; Chapelle, Albert de la; Lehesjoki, Anna‐Elina

doi:10.1086/302206

Cited by 128 publications

(70 citation statements)

References 44 publications

(57 reference statements)

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“…Four associated genes have been identified: POMT1 (Protein-O-mannosyltransferase 1) and POMT2 (Protein-O-mannosyltransferase 2) for WWS, POMGnT1 (Protein O-mannose 1,2-N-acetylglucosaminyltransferase) linked to chromosome 1p32-34 for the Finnish MEB disorder 77,78 , and Fukutin on chromosome 9q31for FCMD 79 (Table 1). All of these genes are involved in the glycosylation of alpha dystroglycan, which are highly glycosylated proteins and act as receptors for the multiple extracellular matrix molecules that maintain stability of the cell surface.…”

Section: Disorders Due To Abnormal Neuronal Migration Arrest Cobblestmentioning

confidence: 99%

Malformations of Cortical Development

Pang¹,

Atefy²,

Sheen³

2008

The Neurologist

144

135

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Section: Disorders Due To Abnormal Neuronal Migration Arrest Cobblestmentioning

confidence: 99%

Malformations of Cortical Development

Pang¹,

Atefy²,

Sheen³

2008

The Neurologist

144

135

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“…Precise staging of dissected embryos was performed using The Atlas of Mouse Development (33). PCR analysis (34) of the SRY gene in genomic DNA was conducted in order to determine the sex of 10-and 12-day embryos. Animal studies were conducted in accordance with the NIH Guide for the Care and Use of Laboratory Animals.…”

Section: Animalsmentioning

confidence: 99%

Developmental expression and spermatogenic stage specificity of transcription factors GATA-1 and GATA-4 and their cofactors FOG-1 and FOG-2 in the mouse testis

Ketola

Anttonen

Vaskivuo

et al. 2002

European Journal of Endocrinology

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Objective: The transcription factors GATA-1 and GATA-4 have been implicated in the regulation of testicular development and function. Their cofactors FOG-1 and FOG-2 are expressed in the gonads, but their cell-specific and developmental expression in the testis remains unresolved. Therefore, we analyzed GATA-1, GATA-4, FOG-1 and FOG-2 expression in detail, from undifferentiated male urogenital ridge to adult testis. Methods: Immunohistochemistry and in situ hybridization were applied on mouse testicular samples. Results: GATA-4 and FOG-2, but not GATA-1 or FOG-1, were expressed as early as in the male urogenital ridge. FOG-2 expression was localized in the Sertoli cells at embryonal day 12.5 (E12.5), but it diminished with advancing fetal testicular development. In E17.5 testis, FOG-2 was present only in the testicular capsule and a subset of fetal Leydig cells. FOG-1 was expressed from E15.5 Sertoli cells onwards, whereas GATA-1 was not detected during the fetal period at all. In the postnatal testis, FOG-2 was abundantly expressed immediately after birth, but in adult testis its expression was predominantly restricted to stage VII -XII seminiferous tubules. Stage specificity was also found for FOG-1, which, similarly to GATA-1, was abundantly expressed in stage VII -XII tubules during adulthood. Conclusions: Our results indicate that FOG-2, in addition to GATA-4, has a role in early gonadal development and sexual differentiation, and FOG-1 at later fetal stages, while GATA-1 executes its action postnatally. The findings suggest that, in contrast to the hematopoietic system and the heart, GATA-1 and GATA-4 do not use FOG-1 and FOG-2 respectively as their only cofactors during the early stages of testicular development.

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“…A number of mutations that result in the absence of laminin-␣2 or a truncated form of laminin-␣2 have been identified in human patients (1). However, in the Japanese Fukuyama-type CMD and the Finnish muscle-eye-brain disease, the reduction in laminin-␣2 expression is secondary to mutations in other genes (7,8).…”

mentioning

confidence: 99%

Amelioration of laminin-α2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin

Qiao

Zhu

et al. 2005

Proc. Natl. Acad. Sci. U.S.A.

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Congenital muscular dystrophy (CMD) is characterized by severe muscle wasting, premature death in early childhood, and lack of effective treatment. Most of the CMD cases are caused by genetic mutations of laminin-␣2, which is essential for the structural integrity of muscle extracellular matrix. Here, we report that somatic gene delivery of a structurally unrelated protein, a miniature version of agrin, functionally compensates for laminin-␣2 deficiency in the murine models of CMD. Adeno-associated virusmediated overexpression of miniagrin restored the structural integrity of myofiber basal lamina, inhibited interstitial fibrosis, and ameliorated dystrophic pathology. Furthermore, systemic gene delivery of miniagrin into multiple vital muscles significantly improved whole body growth and motility and quadrupled the lifespan (50% survival) of the dystrophic mice. Thus, our study demonstrated the efficacy of somatic gene therapy in a mouse model of CMD.adeno-associated virus ͉ integrity ͉ myofiber basal laming ͉ gene therapy

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Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

Cited by 128 publications

References 44 publications

Malformations of Cortical Development

Malformations of Cortical Development

Developmental expression and spermatogenic stage specificity of transcription factors GATA-1 and GATA-4 and their cofactors FOG-1 and FOG-2 in the mouse testis

Amelioration of laminin-α2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin

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