Molecular evolutionary analysis of human primary microcephaly genes
نویسندگان
چکیده
منابع مشابه
Molecular genetics of human microcephaly.
Human microcephaly comprises a heterogeneous group of conditions that are characterized by a failure of normal brain growth. Microcephaly can be caused by many injurious or degenerative conditions, or by developmental malformations in which the growth of the brain is impaired as a result of defects in pattern formation, cell proliferation, cell survival, cell differentiation, or cell growth. Th...
متن کاملMolecular and Cellular Basis of Autosomal Recessive Primary Microcephaly
Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this revi...
متن کاملThe molecular landscape of ASPM mutations in primary microcephaly
BACKGROUND Autosomal recessive primary microcephaly (MCPH) is a model disease to study human neurogenesis. In affected individuals the brain grows at a reduced rate during fetal life resulting in a small but structurally normal brain and mental retardation. The condition is genetically heterogeneous with mutations in ASPM being most commonly reported. METHODS AND RESULTS We have examined this...
متن کاملExpression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas.
Patients with autosomal recessive primary microcephaly have a small but architecturally normal brain containing a reduced number of neurons. Microcephalin and ASPM are two of the genes causing this disease. Both are centrosomal proteins involved in cell cycle regulation. Whereas microcephalin is a component of the DNA damage response and a repressor of telomerase function, ASPM is required for ...
متن کاملMolecular analysis of immunoglobulin genes in primary intraocular lymphoma.
PURPOSE To analyze somatic hypermutations in clonally rearranged IgH chain variable (V) genes of primary intraocular lymphoma (PIOL), to identify the differentiation stage of B-PIOL cells. METHODS Sixteen cases of PIOL were diagnosed on the basis of morphology and immunohistology. In six patients, simultaneous cerebral lymphomatous involvement was known; stereotactic biopsy specimens were inv...
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ژورنال
عنوان ژورنال: BMC Ecology and Evolution
سال: 2021
ISSN: 2730-7182
DOI: 10.1186/s12862-021-01801-0