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Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Centrioles and Centrosomes

Centrioles and Centrosomes

Most animal cells comprise a pair of centrioles together called a centrosome. The cell duplicates its centrosome and contains two centrosomes side-by-side, which begin to move apart during the prophase. As the centrosomes migrate to two different sides of the cell, microtubules start extending from each centrosome toward the other end. The mitotic spindle is composed of the centrosomes and their emerging microtubules.
Near the end of the prophase, also called late prophase or...

Centrosome Duplication

Centrosome Duplication

The primary microtubule organizing center (MTOC) in animal cells is the centrosome. A centrosome has two cylindrical centrioles at its core. Each centriole consists of nine sets of three microtubules held together by proteins. The centrioles are positioned at right angles to each other and surrounded by a shapeless protein cloud called the pericentriolar matrix, or pericentriolar material (PCM).
To ensure that each daughter cell receives a centrosome after cell division, centrosome duplication...

Meiosis II

Meiosis II

Meiosis II is the second and final stage of meiosis. It relies on the haploid cells produced during meiosis I, each of which contain only 23 chromosomes—one from each homologous initial pair. Importantly, each chromosome in these cells is composed of two joined copies, and when these cells enter meiosis II, the goal is to separate such sister chromatids using the same microtubule-based network employed in other division processes. The result of meiosis II is two haploid cells, each...

Interphase

Interphase

The cell cycle occurs over approximately 24 hours (in a typical human cell) and in two distinct stages: interphase, which includes three phases of the cell cycle (G1, S, and G2), and mitosis (M). During interphase, which takes up about 95 percent of the duration of the eukaryotic cell cycle, cells grow and replicate their DNA in preparation for mitosis.

Meiosis I

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...

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Related Experiment Video

Updated: Feb 15, 2026

Imaging Centrosomes in Fly Testes

Imaging Centrosomes in Fly Testes

Published on: September 20, 2013

Same but different: pleiotropy in centrosome-related microcephaly.

Ryan S O'Neill¹, Todd A Schoborg², Nasser M Rusan²

¹Cell Biology and Physiology Center, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892 oneillrs@nih.gov.

Molecular Biology of the Cell

|February 1, 2018

Summary

Centrosome-related microcephaly (CRM) genes impact neurogenesis by affecting neural progenitor cells. This study reveals CRM genes have additional roles beyond mitosis, influencing cell signaling and cytoskeletal functions in neurodevelopment.

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Related Experiment Videos

Last Updated: Feb 15, 2026

Imaging Centrosomes in Fly Testes

Imaging Centrosomes in Fly Testes

Published on: September 20, 2013

Quantitative Immunofluorescence Assay to Measure the Variation in Protein Levels at Centrosomes

Quantitative Immunofluorescence Assay to Measure the Variation in Protein Levels at Centrosomes

Published on: December 20, 2014

Immuno-fluorescent Labeling of Microtubules and Centrosomal Proteins in Ex Vivo Intestinal Tissue and 3D In Vitro Intestinal Organoids

Immuno-fluorescent Labeling of Microtubules and Centrosomal Proteins in Ex Vivo Intestinal Tissue and 3D In Vitro Intestinal Organoids

Published on: December 13, 2017

Area of Science:

Developmental Biology
Genetics
Neuroscience

Background:

Microcephaly is linked to mutations in genes involved in centrosome function.
Centrosome-related microcephaly (CRM) genes are thought to impair neurogenesis through effects on neural progenitor cells, mitosis, and differentiation.

Purpose of the Study:

To explore additional functions of CRM genes beyond their known roles in mitosis.
To investigate how CRM gene mutations contribute to the diverse phenotypes of microcephaly.

Main Methods:

Review and analysis of existing literature on CRM genes.
Exploration of CRM gene functions in cell cycle signaling, actin cytoskeleton regulation, and the Hippo pathway.
Examination of CRM gene roles in postmitotic neurons and glia.

Main Results:

CRM genes regulate cell cycle signaling pathways.
CRM genes influence the actin cytoskeleton.
CRM genes interact with the Hippo pathway and have roles in postmitotic cells.

Conclusions:

The function of CRM genes in neurodevelopment is more complex than previously understood.
CRM genes have multifaceted roles beyond mitosis, impacting various cellular processes crucial for neurogenesis.
Further research into CRM genes will uncover additional functions critical for normal brain development.