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Related Concept Videos

The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
X and Y Chromosomes02:32

X and Y Chromosomes

Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
Dosage Compensation02:50

Dosage Compensation

In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with  distinct numbers of X chromosomes will have...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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A Novel Saturation Mutagenesis Approach: Single Step Characterization of Regulatory Protein Binding Sites in RNA Using Phosphorothioates
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Published on: August 21, 2018

Sex-determining genes.

K McElreavey1, M Fellous

  • 1Immunogénétique Humaine, Institut Pasteur, Paris Cedex 15, France.

Trends in Endocrinology and Metabolism: TEM
|April 15, 2008
PubMed
Summary
This summary is machine-generated.

Human sex determination involves genes like SRY, but most sex reversal cases, such as XY females and XX males, lack mutations in known genes. Further research is needed to identify novel genes in the sex-determining pathway.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Endocrinology

Background:

  • Human sex determination is a complex process influenced by specific genes.
  • Mutations in known genes like SRY, WT1, DAX-1, SOX9, and ATRX can cause sex reversal.
  • However, most cases of XY females and XX males are not explained by mutations in these identified genes.

Purpose of the Study:

  • To review recent advancements in understanding human sex determination.
  • To discuss the ongoing search for novel genes involved in the sex-determining pathway.
  • To explore the genetic basis of unexplained sex reversal conditions.

Main Methods:

  • Literature review of recent genetic and developmental biology studies.
  • Analysis of identified genes associated with human sex determination.
  • Discussion of current research trends and future prospects in the field.

Main Results:

  • Several key genes (WT1, DAX-1, SOX9, ATRX, SRY) are known to be involved in human sex determination.
  • A significant proportion of human sex reversal cases remain genetically unexplained.
  • Recent research is actively pursuing the identification of additional genes in the sex-determining pathway.

Conclusions:

  • The genetic landscape of human sex determination is complex and not fully elucidated.
  • Identifying novel genes is crucial for understanding and potentially treating sex reversal disorders.
  • Further investigation into the sex-determining pathway holds promise for advancing reproductive medicine.