Chromosome 3p25.3

Chromosome 3p25.3 is a specific region on the short arm (p) of human chromosome 3. It spans from base pair position 8,750,000 to 10,250,000 on chromosome 3, according to the GRCh38/hg38 human reference genome assembly. This region contains several genes and has been implicated in various genetic disorders and diseases.

Genes in Chromosome 3p25.3

Several genes are located within the 3p25.3 region, and their functions contribute to various biological processes. Some of the notable genes in this region include:

1. CHRDL1: CHRDL1 (Chordin-Like 1) encodes a secreted protein involved in embryonic development and modulating the bone morphogenetic protein (BMP) signaling pathway. Mutations or dysregulation of CHRDL1 have been associated with X-linked megalocornea and implicated in certain cancers.
2. MEGF10: MEGF10 (Multiple Epidermal Growth Factor-Like Domains 10) is involved in muscle development and is associated with a form of early-onset myopathy called early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD). Mutations in MEGF10 disrupt normal muscle function and lead to muscle weakness and respiratory difficulties.
3. C3orf67: C3orf67 (Chromosome 3 Open Reading Frame 67) is a gene with unknown function. Further research is needed to understand its role in cellular processes and human health.
4. CEP70: CEP70 (Centrosomal Protein 70) is involved in centrosome biology and plays a role in proper cell division. It helps ensure the accurate distribution of genetic material during cell division, and its dysfunction can lead to abnormalities in cell division and genomic instability.

Clinical Significance

Alterations in chromosome 3p25.3 have been associated with various genetic disorders and diseases. Chromosomal rearrangements, such as deletions or duplications, involving this region can lead to genetic conditions with diverse clinical presentations. Some examples include:

1. 3p- Syndrome: The deletion of a portion of chromosome 3p25.3 can result in a syndrome known as 3p- syndrome or 3p deletion syndrome. This condition is characterized by developmental delay, intellectual disability, distinctive facial features, growth retardation, and other physical abnormalities.
2. EMARDD: Mutations in the MEGF10 gene within the 3p25.3 region have been associated with early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD). This rare condition manifests with muscle weakness, respiratory difficulties, feeding problems, and delayed motor milestones.
3. Other Disorders: Chromosomal rearrangements involving 3p25.3 have been implicated in other conditions, such as intellectual disability, autism spectrum disorders, and various types of cancer. The specific genes and mechanisms underlying these associations require further investigation.

Research and Future Perspectives

Ongoing research continues to shed light on the functions of genes within the 3p25.3 region and their implications in human health and disease. Advances in molecular genetics and genome sequencing technologies are enabling researchers to better understand the genetic basis of conditions associated with chromosome 3p25.3 alterations.

Further studies are needed to elucidate the precise roles of genes in this region and their interactions with other genes and environmental factors. The insights gained from such research may contribute to the development of diagnostic tools, therapeutic approaches, and genetic counseling for individuals affected by conditions associated with chromosome 3p25.3.

References

1. Ou Z, Stankiewicz P, Xia Z, et al. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011;21(1):33-46. doi:10.1101/gr.109157.110.
2. El-Hattab AW, Schaaf CP, Fang P, et al. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. BMC Med Genet. 2011;12:160. doi:10.1186/1471-2350-12-160.
3. Zhang C, Cai Y, Qi J, et al. A case of 3p25.3 microdeletion with novel features: Insights into the clinical phenotype and genetic basis. Mol Genet Genomic Med. 2020;8(2):e1097. doi:10.1002/mgg3.1097.