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The Ras Gene

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
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The Retinoblastoma Gene

The Retinoblastoma Gene

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Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Abnormal Proliferation

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...

Nonsense-mediated mRNA Decay

Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
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Mutations

Mutations

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Related Experiment Video

Updated: Jul 13, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.

Jenny Douglas¹, Deirdre Cilliers, Kim Coleman

¹Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK.

Nature Genetics

|July 17, 2007

Summary

Genetic analysis revealed mutations in RNF135 cause a new overgrowth syndrome. This finding also explains growth differences in neurofibromatosis type 1 (NF1) microdeletion cases, highlighting RNF135

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

Genetics
Human Physiology
Molecular Biology

Background:

17q11 microdeletions encompassing the NF1 gene account for 5-10% of neurofibromatosis type 1 cases.
Individuals with these microdeletions often exhibit increased height compared to those with intragenic NF1 mutations, suggesting a role for neighboring genes in growth regulation.

Purpose of the Study:

To identify the genetic basis for a novel overgrowth syndrome.
To investigate the contribution of the RNF135 gene to human growth and the phenotype of NF1 microdeletions.

Main Methods:

Genetic analysis of six families with overgrowth and related features.
Mutation identification in the RNF135 gene within the NF1 microdeletion region.

Main Results:

Mutations in RNF135 were identified in six families presenting with overgrowth, learning disability, dysmorphic features, and other variable clinical manifestations.
These findings establish RNF135 as a gene causative of a new overgrowth syndrome.

Conclusions:

RNF135 haploinsufficiency is responsible for a novel overgrowth syndrome.
The study demonstrates that RNF135 haploinsufficiency contributes to the characteristic phenotype observed in neurofibromatosis type 1 (NF1) microdeletion cases, including increased stature.