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Related Concept Videos

The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

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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....
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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.
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Sex-linked Disorders01:43

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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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Human Chromosome Y and Haplogroups; introducing YDHS Database.

Timo Tiirikka1, Jukka S Moilanen

  • 1Department of Clinical Genetics, Oulu University Hospital, PEDEGO Research Unit, University of Oulu, and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, PO Box 23, FI-90029, Oulu, Finland, timo.tiirikka@student.oulu.fi.

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|June 11, 2015
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Summary

A new metadatabase, YDHS, offers a free, user-friendly interface for exploring Y-chromosomal DNA (Y-DNA) haplogroups and variants. This resource aids researchers and the public in understanding genetic diversity and Y-SNP roles in various conditions.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Population Genetics

Background:

  • High-throughput sequencing generates vast biological data, prompting interpretation of genetic polymorphisms.
  • Growing public interest in genealogy and personal biological background drives demand for genetic analysis.
  • Commercial vendors offer Y-chromosomal and mitochondrial DNA analyses, highlighting the need for accessible data.

Purpose of the Study:

  • To introduce YDHS, a novel metadatabase providing a free, easy-to-use interface for Y-chromosomal DNA (Y-DNA) haplogroups and sequence variants.
  • To consolidate scattered information on Y-DNA variants, making it accessible to professionals and the general public.
  • To facilitate deeper analysis of Y-SNPs and their potential roles in various biological contexts.

Main Methods:

  • Utilized the ISOGG Y-DNA tree as the source for mutations and haplogroups.
  • Linked mutations to genes and biological entities using genomic positions.
  • Integrated analysis tools for in-depth Y-SNP analysis within the YDHS database.

Main Results:

  • YDHS addresses the scarcity of dedicated Y-DNA databases.
  • The database was validated using literature cases, including infertility and autism.
  • The YDHS resource is publicly accessible at http://www.semanticgen.net/ydhs.

Conclusions:

  • Y-chromosomal DNA (Y-DNA) haplogroups and variants are underrepresented in scientific literature outside specialized fields.
  • YDHS demonstrates that Y-SNPs play significant roles at the haplogroup level across various conditions.
  • A free, dedicated bioinformatics resource for Y-DNA analysis is feasible and valuable.