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Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Pleiotropy01:33

Pleiotropy

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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,...
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Development of the Sexual Organs in the Embryo and Fetus01:15

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Development of the reproductive organs in an embryo starts from a bipotential state. This means the early embryo can develop either male or female reproductive organs. The formation of these organs begins with the growth of gonadal ridges that arise from the intermediate mesoderm during the fifth week of development.
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Cis-regulatory Sequences02:02

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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...
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Video Experimental Relacionado

Updated: Sep 1, 2025

Isolation and Characterization of the Murine Uterosacral Ligaments and Pelvic Floor Organs
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Los científicos han aislado los genes que dan forma a la pelvis humana

Michael Price

    Science (New York, N.Y.)
    |August 18, 2022
    PubMed
    Resumen

    El desarrollo pélvico embrionario revela los orígenes de la locomoción bípeda. Este estudio revela cómo la forma de la pelvis humana, esencial para caminar erguida, se forma durante el desarrollo temprano.

    Área de la Ciencia:

    • Biología evolutiva
    • Biología del desarrollo
    • La anatomía humana

    Sus antecedentes:

    • La pelvis humana exhibe una forma única optimizada para el bipedalismo, que la distingue de otros primates.
    • Comprender los procesos de desarrollo que dan forma a la pelvis embrionaria es crucial para comprender la evolución humana.

    Objetivo del estudio:

    • Para investigar el desarrollo embrionario de la pelvis humana.
    • Para aclarar los mecanismos celulares y moleculares que subyacen a la formación de la pelvis para el bipedismo.

    Principales métodos:

    • Análisis de muestras de tejido embrionario.
    • Examen histológico de las estructuras pélvicas en desarrollo.
    • Estudios anatómicos comparativos.

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    Principales resultados:

    • Los tejidos embrionarios muestran signos tempranos de formación que predisponen la pelvis a caminar erguida.
    • Se identifican vías de desarrollo específicas como críticas para lograr la forma pélvica adaptada a los bípedos.

    Conclusiones:

    • La morfología pélvica para el bipedismo se establece durante el desarrollo embrionario.
    • Este proceso de desarrollo pone de relieve la profunda historia evolutiva de la locomoción vertical humana.