Chromosome Y News and Research

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The Y chromosome is one of the two sex chromosomes in humans (the other is the X chromosome). The sex chromosomes form one of the 23 pairs of human chromosomes in each cell. The Y chromosome spans about 58 million base pairs (the building blocks of DNA) and represents almost 2 percent of the total DNA in cells.

Each person normally has one pair of sex chromosomes in each cell. The Y chromosome is present in males, who have one X and one Y chromosome, while females have two X chromosomes.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. The Y chromosome likely contains between 70 and 200 genes. Because only males have the Y chromosome, the genes on this chromosome tend to be involved in male sex determination and development. Sex is determined by the SRY gene, which is responsible for the development of a fetus into a male. Other genes on the Y chromosome are important for male fertility.

Many genes are unique to the X or Y chromosome, but genes in an area known as the pseudoautosomal region are present on both chromosomes. As a result, men and women each have two functional copies of these genes. Many genes in the pseudoautosomal region are essential for normal development.

Genes on the Y chromosome are among the estimated 20,000 to 25,000 total genes in the human genome.

Dual pathways found for centromere specification, ensuring accurate chromosome segregation

Despite the immense amount of genetic material present in each cell, around three billion base pairs in humans, this material needs to be accurately divided in two and allocated in equal quantities.

8 Jan 2026

New DNA tests reveal hidden biological traces on Renaissance art

DNA analysis of cultural artifacts shows diverse biological profiles, but contamination and mixed signals complicate historical lineage interpretation.

8 Jan 2026

Study uncovers how aggressive breast cancer cells escape immune defenses

With a new study in the journal Science Bulletin, researchers at Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University have discovered a new way that aggressive breast cancer cells escape the immune defenses.

1 Jan 2026

New insights into how a molecular gatekeeper controls early protein modification

For years, ETH researchers have been investigating a molecular complex that plays a key role in protein synthesis. They have now discovered that this complex also contributes a crucial function in ensuring that our DNA is properly processed and “packaged”.

19 Dec 2025

Researchers discover the enzyme responsible for chromothripsis in cancer

University of California San Diego researchers have discovered the enzyme responsible for chromothripsis, a process in which a single chromosome is shattered into pieces and rearranged in a scrambled order, allowing cancer cells to rapidly evolve and become resistant to treatment.

11 Dec 2025

Shared genetic roots of 14 psychiatric disorders revealed

Researchers from the Psychiatric Genomics Consortium (PGC) report that most genetic influences on mental illness are shared across diagnostic categories, revealing a more interconnected biological landscape than traditional classifications suggest.

11 Dec 2025

Australian researchers pinpoint specific genetic changes linked to severe AMD

Australian researchers have for the first time pinpointed specific genetic changes that increase the risk of severe, sight-threatening forms of age-related macular degeneration (AMD).

9 Dec 2025

Study reveals new genetic insights into reticular pseudodrusen in people with AMD

A study funded in part by the National Institutes of Health (NIH) has revealed important insights into the genetics of deposits in the eye, known as reticular pseudodrusen (RPD), that are linked to greater risk of vision loss among people with age-related macular degeneration (AMD).

8 Dec 2025

A slow-growing, bone-covered, noncancerous mass named as ossifying spindled and epithelioid tumor

It's not often that a pathologist gets to make a diagnosis that works for the patient by preventing treatment from occurring.

8 Dec 2025

Chemotherapy-free combination treatment outperforms traditional regimens in patients with Ph+ ALL

A chemotherapy-free combination treatment outperformed a combination of targeted therapy and chemotherapy among patients with Ph+ acute lymphoblastic leukemia (ALL) in a new study.

7 Dec 2025

Study reveals ATM kinase as the key driver of replicative senescence

After a finite number of divisions, cells simply give up. As each round of replication trims their telomeres-the protective caps at the chromosome ends-those caps eventually become too short to prevent chromosome ends from being recognized as DNA breaks.

1 Dec 2025

Genetic signals reveal why erectile dysfunction develops and who is most at risk

This multi-ancestry genomic study identifies key genetic loci underlying erectile dysfunction and shows that ED risk is shaped by both cardiometabolic and substance use–related genetic pathways. Using EHR-linked data, the researchers uncover SIM1-related mechanisms, modest PRS performance, and bidirectional genetic links with obesity, diabetes, and addiction traits.

25 Nov 2025

New discovery could reshape how scientists think about Alzheimer’s treatment

Rutgers neuroscientist Peng Jiang was visiting his hometown of Qianshan, a city in China's Anhui province, when a neighbor came to his parents' house with a story that would stay with him.

24 Nov 2025

UC Davis researchers lead $5.5 million study on language development in children with Down syndrome

UC Davis researchers are leading a $5.5 million study to better understand how children with Down syndrome develop expressive communication - the skills used to share what we want, think or feel.

21 Nov 2025

Study highlights need for XDP specific diagnostic assays

Scientists at Brigham and Women's Hospital and Harvard Medical School have developed a targeted genetic test to improve diagnosis for X-linked dystonia-parkinsonism (XDP), a rare and disabling movement disorder that affects primarily men of Filipino ancestry.

17 Nov 2025

Uncovering hidden causes of recurrent pregnancy loss with optical genome mapping

Pregnancy loss may occur in as many as 25% of all pregnancies. Most of these losses occur in the first trimester, and about half are caused by genetic or chromosomal issues.

14 Nov 2025

Whole genome sequencing reveals how much human heritability we can finally explain

Whole genome sequencing in nearly 500,000 UK Biobank participants shows that observed rare and common variants now explain about 88% of family based heritability for many human traits. By partitioning heritability into rare versus common and coding versus non-coding components, the study narrows where missing heritability still hides and highlights traits that remain only partly understood.

13 Nov 2025

Study clarifies how biliary atresia overlaps with multiple congenital syndromes

Biliary atresia (BA) represents one of the leading causes of pediatric liver failure, often requiring surgical intervention or transplantation in early infancy.

12 Nov 2025

Study uncovers new mechanism for chromosome congression during mitosis

A research team from The University of Osaka, in collaboration with the Massachusetts Institute of Technology, has uncovered a new molecular mechanism underlying chromosome alignment during cell division. The study demonstrates that two motor proteins, KIF18A and CENP-E, act cooperatively to ensure proper chromosome congression. Remarkably, simultaneous inhibition of these proteins selectively kills cancer cells, suggesting a promising therapeutic avenue.

10 Nov 2025

Maternal type 1 diabetes may protect children from developing the disease

Findings suggest maternal T1D exposure leads to protective epigenetic alterations in children, influencing immune response and type 1 diabetes susceptibility.