Autosome News and Research

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Autosomes are any chromosome other than a sex chromosome. Humans have 22 pairs of autosomes.

Copy number profiling provides insight as to why prostate cancer may become lethal

Researchers performed genome-wide copy number profiling of the androgen receptor (AR) on metastases from deceased prostate cancer patients.

16 Aug 2023

What parents need to know about prenatal tests | BGI Perspectives

The birth of every new life is to be celebrated! Expecting parents often advised by doctors from the department of gynecology and obstetrics to consider noninvasive prenatal tests (NIPT).

From BGI Genomics 26 Oct 2022

Roundworms shed light on vision loss in a rare human genetic disorder

In this interview, News-Medical speaks to Xinxing Zhang, a postdoctoral research fellow at the University of Michigan, about his research investigating vision loss in Bardet-Biedl syndrome.

4 Jul 2022

Gitelman syndrome more common in Japanese population than previously reported

Clinical Fellow KONDO Atsushi and Professor NOZU Kandai et al. of Kobe University's Graduate School of Medicine have estimated the prevalence of Gitelman syndrome across different ethnicities using a genome database.

30 Aug 2021

Full assembly of human chromosome 8 reveals novel genes, disease risks

The full assembly of human chromosome 8 is reported this week in Nature. While on the outside this chromosome looks typical, being neither short nor long or distinctive, its DNA content and arrangement are of interest in primate and human evolution, in several immune and developmental disorders, and in chromosome sequencing structure and function generally.

8 Apr 2021

Argininosuccinic aciduria (ASA) and gene therapy: an interview with Dr Julien Baruteau, UCL Institute for Women's Health, London

This rare genetic condition can theoretically affect patients at any age but symptoms are more often observed in childhood and even uncommonly during the first days of life.

2 Sep 2013

Intellectual disability often results from genetic causes that are not inherited

New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. These findings are good news for parents, indicating a low risk of passing on the disorder to further children.

28 Sep 2012

Study may help in treating sex differentiation disorders in children

Is it a boy or a girl? Expecting parents may be accustomed to this question, but contrary to what they may think, the answer doesn't depend solely on their child's sex chromosomes.

11 Dec 2009

Move over, Y chromosome - it's time X got some attention

In the first evolutionary study of the chromosome associated with being female, University of California, Berkeley, biologist Doris Bachtrog and her colleagues show that the history of the X chromosome is every bit as interesting as the much-studied, male-determining Y chromosome, and offers important clues to the origins and benefits of sexual reproduction.

16 Apr 2009

Discovery of gene behind new form of intellectual disability

The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP).

24 Apr 2008

New explanation for evolutionary changes in genetic sex-determination systems

In animals with separate sexes, embryos commit to becoming male or female at an early stage.

22 Oct 2007

Extensive gene traffic, the process of genes leaving and arriving on the chromosome

Researchers at the University of Chicago have discovered there is extensive gene “traffic”—the process of genes leaving and arriving on the chromosome—on the mammalian X chromosome. They also have overturned a conventional theory about how genes evolved on the sex chromosome.

16 Apr 2004