DNAI1

Reviewed August 2010

What is the official name of the DNAI1 gene?

The official name of this gene is “dynein, axonemal, intermediate chain 1.”

DNAI1 is the gene's official symbol. The DNAI1 gene is also known by other names, listed below.

What is the normal function of the DNAI1 gene?

The DNAI1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex functions within cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Coordinated back and forth movement of cilia can move the cell or the fluid surrounding the cell. Dynein produces the force needed for cilia to move.

Within the core of cilia (the axoneme), dynein complexes are part of structures known as inner dynein arms (IDAs) and outer dynein arms (ODAs) depending on their location. Coordinated movement of the dynein arms causes the entire axoneme to bend back and forth. IDAs and ODAs have different combinations of protein components (subunits) that are classified by weight as heavy, intermediate, or light chains. The DNAI1 gene provides instructions for making intermediate chain 1, which is found in ODAs. Other subunits are produced from different genes.

Does the DNAI1 gene share characteristics with other genes?

The DNAI1 gene belongs to a family of genes called DN (axonemal dyneins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the DNAI1 gene related to health conditions?

primary ciliary dyskinesia - caused by mutations in the DNAI1 gene: At least 20 mutations in the DNAI1 gene have been found to cause primary ciliary dyskinesia. These mutations result in an absent or abnormal intermediate chain 1. Without a normal version of this subunit, the ODAs cannot form properly and may be shortened or absent. As a result, cilia cannot produce the force needed to bend back and forth. Defective cilia are responsible for the features of primary ciliary dyskinesia, including respiratory tract infections, abnormal organ placement, and an inability to have children (infertility).

Where is the DNAI1 gene located?

Cytogenetic Location: 9p13.3

Molecular Location on chromosome 9: base pairs 34,458,810 to 34,520,981

The DNAI1 gene is located on the short (p) arm of chromosome 9 at position 13.3.

More precisely, the DNAI1 gene is located from base pair 34,458,810 to base pair 34,520,981 on chromosome 9.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about DNAI1?

You and your healthcare professional may find the following resources about DNAI1 helpful.

Educational resources - Information pages
Molecular Cell Biology (fourth edition, 2000): Cilia and Flagella: Structure and Movement (http://www.ncbi.nlm.nih.gov/books/NBK21698/)
Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1122/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for DNAI1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=27019%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(DNAI1%5BTIAB%5D)%20AND%20(primary%20ciliary%20dyskinesia%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/604366)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/27019)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=27019)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2954)

What other names do people use for the DNAI1 gene or gene products?

axonemal dynein intermediate chain 1
CILD1
DIC1
DNAI1_HUMAN
dynein, axonemal, intermediate polypeptide 1
dynein intermediate chain 1, axonemal
dynein intermediate chain DNAI1
IC78
ICS1
immotile cilia syndrome 1
MGC26204

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DNAI1?

cell ; dyskinesia ; gene ; infertility ; protein ; respiratory ; subunit ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/27019)
Escudier E, Duquesnoy P, Papon JF, Amselem S. Ciliary defects and genetics of primary ciliary dyskinesia. Paediatr Respir Rev. 2009 Jun;10(2):51-4. doi: 10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19410201?dopt=Abstract)
Failly M, Saitta A, Muñoz A, Falconnet E, Rossier C, Santamaria F, de Santi MM, Lazor R, DeLozier-Blanchet CD, Bartoloni L, Blouin JL. DNAI1 mutations explain only 2% of primary ciliary dykinesia. Respiration. 2008;76(2):198-204. doi: 10.1159/000128567. Epub 2008 Apr 23. (http://www.ncbi.nlm.nih.gov/pubmed/18434704?dopt=Abstract)
Gene Review: Primary Ciliary Dyskinesia (http://www.ncbi.nlm.nih.gov/books/NBK1122/)
Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19606528?dopt=Abstract)
OMIM: DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1 (http://omim.org/entry/604366)
Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clément A, Goossens M, Amselem S, Duriez B. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet. 1999 Dec;65(6):1508-19. (http://www.ncbi.nlm.nih.gov/pubmed/10577904?dopt=Abstract)
Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. Epub 2006 Jul 20. (http://www.ncbi.nlm.nih.gov/pubmed/16858015?dopt=Abstract)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.



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